Allele Registry

Canonical Allele Identifier: PA2830146417

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274574

ClinVar RCV:

RCV000318950

RCV000404395

RCV000530876

ClinVar Variation:

290337

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Ala918Val	CA2189180 NM_057165.5:c.2753C>T