Allele Registry

Canonical Allele Identifier: PA2830150436

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000172852

RCV000389218

RCV001372713

ClinVar Variation:

192264

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Arg2295His	CA200149 NM_057167.4:c.6884G>A