Allele Registry

Canonical Allele Identifier: PA645433274

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

226491

ClinVar RCV:

RCV000234070

RCV000685020

RCV000726521

ClinVar Variation:

224685

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg453His	CA10575986 NM_001849.4:c.1358G>A