Allele Registry

Canonical Allele Identifier: PA094171

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

191907

ClinVar RCV:

RCV000175185

RCV000724747

ClinVar Variation:

194744

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2080Asp	CA275040 NM_004369.4:c.6239G>A