Allele Registry

Canonical Allele Identifier: PA645455446

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000710911

RCV001207298

RCV004549593

ClinVar Variation:

287133

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Gly2297Ala	CA10605679 NM_004369.4:c.6890G>C