Allele Registry

Canonical Allele Identifier: PA2830145450

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000661955

RCV000661956

RCV000661957

RCV000727405

RCV003278864

ClinVar Variation:

449785

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Asp667Asn	CA2189212 NM_057164.5:c.1999G>A