Multiple isoforms not in index

[sicotte]

Some of the reference transcripts used by clinvar are not always the ones chosen by Clinical labs. The current version of this pipeline generates a single "hgvs_c" and "hgvs_p" for the reference transcript only.
e.g. in https://www.ncbi.nlm.nih.gov/clinvar/variation/12408/ look under "hgvs" and you will find two NM and two AA changes and an "Other names" section all indicating a two transcripts annotations.

NM_001001430.2(TNNT2):c.236T>A (p.Ile79Asn)
Other names:
p.I79N:ATC>AAC
Protein change:I79N, I89N
HGVS:
NG_007556.1:g.17040T>A
NM_000364.3:c.266T>A
NM_001001430.2:c.236T>A

Please let me know if you plan on working on this, I might. [email protected]