Allele Registry

Canonical Allele Identifier: PA916059664

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000730760

ClinVar Variation:

595257

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile2331Thr	CA3852107 NM_170724.3:c.6992T>C