Allele Registry

Canonical Allele Identifier: PA2830145795

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000316225

RCV000526526

ClinVar Variation:

281848

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Val168Met	CA2189701 NM_057165.5:c.502G>A