Allele Registry

Canonical Allele Identifier: PA2830146359

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

490733

ClinVar RCV:

RCV000597773

RCV001206779

ClinVar Variation:

499309

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Asp857Asn	CA2189224 NM_057165.5:c.2569G>A