Allele Registry

Canonical Allele Identifier: PA658672257

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000541712

RCV003144370

ClinVar Variation:

476499

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ser354Asn	CA351222204 NM_004369.4:c.1061G>A