Allele Registry

Canonical Allele Identifier: PA098085

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000169334

RCV001843489

RCV002492692

ClinVar Variation:

188959

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Gly1123Ser	CA274186 NM_138694.3:c.3367G>A