Allele Registry

Canonical Allele Identifier: PA2830148515

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000328502

RCV001088627

ClinVar Variation:

286480

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala2357Val	CA2187420 NM_057166.5:c.7070C>T