Allele Registry

Canonical Allele Identifier: PA658675779

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000526795

RCV000733108

RCV004023792

ClinVar Variation:

458593

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg994Gln	CA138961789 NM_138694.3:c.2981G>A