Allele Registry

Canonical Allele Identifier: PA2830145103

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000281298

RCV001226883

ClinVar Variation:

282106

HGVS (amino-acid)	Matching Registered Transcripts
NP_476505.3:p.Asn247Ser	CA2189505 NM_057164.5:c.740A>G