Allele Registry

Canonical Allele Identifier: PA2830148593

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000349824

RCV000689510

ClinVar Variation:

283406

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Tyr2463Cys	CA2187330 NM_057166.5:c.7388A>G