Allele Registry

Canonical Allele Identifier: PA645433125

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000384759

RCV001216066

ClinVar Variation:

284768

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly262Asp	CA10604901 NM_001849.4:c.785G>A