Allele Registry

Canonical Allele Identifier: PA2825171577

Gene: ABCB4 HGNC NCBI

ClinVar Allele:

28729

ClinVar RCV:

RCV000014688

RCV000033065

RCV000190560

RCV000498517

RCV003226159

RCV004532350

ClinVar Variation:

13690

HGVS (amino-acid)	Matching Registered Transcripts
NP_000434.1:p.Ser320Phe	CA123359 NM_000443.4:c.959C>T