Allele Registry

Canonical Allele Identifier: PA645434579

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000312881

RCV000653564

ClinVar Variation:

281946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Thr987Met	CA10073115 NM_001849.4:c.2960C>T