Allele Registry

Canonical Allele Identifier: PA2830150861

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

286068

ClinVar RCV:

RCV000396697

RCV000428268

RCV000653682

RCV002298572

RCV004549762

ClinVar Variation:

335097

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ala2844Thr	CA2187346 NM_057167.4:c.8530G>A