Allele Registry

Canonical Allele Identifier: PA645434537

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000328906

RCV000385853

RCV000694258

RCV001569334

ClinVar Variation:

340385

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val973Met	CA10073095 NM_001849.4:c.2917G>A