Allele Registry

Canonical Allele Identifier: PA222666

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

100900

ClinVar RCV:

RCV000081005

RCV001324707

RCV002514422

ClinVar Variation:

95000

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala2670Thr	CA222664 NM_004369.4:c.8008G>A