Allele Registry

Canonical Allele Identifier: PA916059445

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000365257

RCV000725304

ClinVar Variation:

283652

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Pro1791Leu	CA501106 NM_170724.3:c.5372C>T