Allele Registry

Canonical Allele Identifier: PA645455084

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274574

ClinVar RCV:

RCV000318950

RCV000404395

RCV000530876

ClinVar Variation:

290337

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala1124Val	CA2189180 NM_004369.4:c.3371C>T