Allele Registry

Canonical Allele Identifier: PA2830147477

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

450849

ClinVar RCV:

RCV000551304

RCV003144373

RCV003159937

ClinVar Variation:

476532

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Val1103Ile	CA2188739 NM_057166.5:c.3307G>A