Allele Registry

Canonical Allele Identifier: PA645507781

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000405708

RCV000549371

RCV001844823

RCV003910015

ClinVar Variation:

288720

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Val732Phe	CA3853307 NM_138694.3:c.2194G>T