Allele Registry

Canonical Allele Identifier: PA916059884

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000179135

RCV000790666

RCV001174653

RCV003407467

ClinVar Variation:

96432

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Cys2803Arg	CA224100 NM_170724.3:c.8407T>C