Allele Registry

Canonical Allele Identifier: PA2830148803

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000397876

RCV003765657

ClinVar Variation:

288501

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Gly251Val	CA2189634 NM_057167.4:c.752G>T