Allele Registry

Canonical Allele Identifier: PA2830150265

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000710911

RCV001207298

RCV004549593

ClinVar Variation:

287133

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly2091Ala	CA10605679 NM_057167.4:c.6272G>C