Allele Registry

Canonical Allele Identifier: PA2828052441

Gene: ABCG8 HGNC NCBI

ClinVar Allele:

272701

ClinVar RCV:

RCV000395777

RCV001139254

RCV001514945

RCV002348017

RCV002494877

RCV003930153

ClinVar Variation:

288464

HGVS (amino-acid)	Matching Registered Transcripts
NP_001344250.1:p.Arg164Gln	CA1637032 NM_001357321.2:c.491G>A