Allele Registry

Canonical Allele Identifier: PA215990

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000050245

RCV001853072

ClinVar Variation:

56907

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly1859Ser	CA215987 NM_057167.4:c.5575G>A