Allele Registry

Canonical Allele Identifier: PA224099

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000082581

RCV000473573

RCV000659055

RCV001507100

RCV001844807

RCV003935071

ClinVar Variation:

96431

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Gly2782Ala	CA224098 NM_138694.3:c.8345G>C