Allele Registry

Canonical Allele Identifier: PA645433112

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

350917

ClinVar RCV:

RCV000270969

RCV000363224

RCV000512764

RCV001865241

ClinVar Variation:

340363

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Ala217Thr	CA10071363 NM_001849.4:c.649G>A