Allele Registry

Canonical Allele Identifier: PA645433683

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000281777

RCV000320418

RCV000593147

RCV000794426

ClinVar Variation:

340380

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val859Met	CA10072931 NM_001849.4:c.2575G>A