Allele Registry

Canonical Allele Identifier: PA224076

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000082552

RCV001158630

RCV001578915

RCV002513852

RCV003894941

ClinVar Variation:

96402

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ser1435Thr	CA224075 NM_138694.3:c.4304G>C