Allele Registry

Canonical Allele Identifier: PA645455467

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000333171

RCV000696056

ClinVar Variation:

290462

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2505Arg	CA2187792 NM_004369.4:c.7513G>A CA351202467 NM_004369.4:c.7513G>C