Allele Registry

Canonical Allele Identifier: PA2830148580

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000396697

RCV000428268

RCV000653682

RCV002298572

RCV004549762

ClinVar Variation:

335097

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala2443Thr	CA2187346 NM_057166.5:c.7327G>A