Allele Registry

Canonical Allele Identifier: PA2830149883

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

490005

ClinVar RCV:

RCV000591644

RCV001078890

RCV004024742

ClinVar Variation:

498581

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Phe1646Ser	CA2188631 NM_057167.4:c.4937T>C