Allele Registry

Canonical Allele Identifier: PA2830147985

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000710911

RCV001207298

RCV004549593

ClinVar Variation:

287133

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1690Ala	CA10605679 NM_057166.5:c.5069G>C