Allele Registry

Canonical Allele Identifier: PA2830149635

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000591152

RCV001419741

ClinVar Variation:

501925

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Asp1349Asn	CA2188847 NM_057167.4:c.4045G>A