Allele Registry

Canonical Allele Identifier: PA645440194

Gene: ABCG5 HGNC NCBI

ClinVar Allele:

286313

ClinVar RCV:

RCV000290288

RCV001209660

RCV002323543

RCV003137963

RCV003480606

RCV003922453

ClinVar Variation:

336042

HGVS (amino-acid)	Matching Registered Transcripts
NP_071881.1:p.Thr388Met	CA1636380 NM_022436.3:c.1163C>T