Allele Registry

Canonical Allele Identifier: PA916054417

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000234070

RCV000685020

RCV000726521

ClinVar Variation:

224685

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Arg453His	CA10575986 NM_058175.3:c.1358G>A