Allele Registry

Canonical Allele Identifier: PA645440177

Gene: ABCG5 HGNC NCBI

ClinVar Allele:

271030

ClinVar RCV:

RCV000272378

RCV000365368

RCV001094756

RCV001723873

RCV002392804

RCV003982991

ClinVar Variation:

286793

HGVS (amino-acid)	Matching Registered Transcripts
NP_071881.1:p.Arg50Cys	CA1636763 NM_022436.3:c.148C>T