Allele Registry

Canonical Allele Identifier: PA2830148719

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000541712

RCV003144370

ClinVar Variation:

476499

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ser148Asn	CA351222204 NM_057167.4:c.443G>A