Allele Registry

Canonical Allele Identifier: PA645455494

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000233428

RCV000327869

RCV000686686

RCV001589105

ClinVar Variation:

224696

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ile2723Thr	CA2187607 NM_004369.4:c.8168T>C