Allele Registry

Canonical Allele Identifier: PA645455416

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000334260

RCV001059032

ClinVar Variation:

280028

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2053Val	CA10602841 NM_004369.4:c.6158G>T