Allele Registry

Canonical Allele Identifier: PA2828053053

Gene: ABCG8 HGNC NCBI

ClinVar Allele:

272704

ClinVar RCV:

RCV000340091

RCV000395773

RCV001270619

RCV002411167

RCV003897633

ClinVar Variation:

288467

HGVS (amino-acid)	Matching Registered Transcripts
NP_001344250.1:p.Ala641Thr	CA1637726 NM_001357321.2:c.1921G>A