Allele Registry

Canonical Allele Identifier: PA246682

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

195329

ClinVar RCV:

RCV000179436

RCV000653600

ClinVar Variation:

198168

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Pro815His	CA246680 NM_004369.4:c.2444C>A