Allele Registry

Canonical Allele Identifier: PA658672366

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000661955

RCV000661956

RCV000661957

RCV000727405

RCV003278864

ClinVar Variation:

449785

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Asp1074Asn	CA2189212 NM_004369.4:c.3220G>A