Allele Registry

Canonical Allele Identifier: PA645507797

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000266382

RCV000304554

RCV003417914

ClinVar Variation:

289890

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Gly942Ala	CA3853094 NM_138694.3:c.2825G>C