Allele Registry

Canonical Allele Identifier: PA244833

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

194138

ClinVar RCV:

RCV000177877

RCV000352490

RCV003114326

RCV003387788

ClinVar Variation:

196977

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Lys2483Glu	CA244831 NM_004369.4:c.7447A>G