Allele Registry

Canonical Allele Identifier: PA117157

Gene: ABCG8 HGNC NCBI

ClinVar RCV:

RCV000005263

RCV000266053

RCV000269126

RCV001094725

RCV001705581

RCV002345232

RCV002490320

RCV003982825

ClinVar Variation:

4975

HGVS (amino-acid)	Matching Registered Transcripts
NP_071882.1:p.Asp19His	CA117156 NM_022437.3:c.55G>C