Allele Registry

Canonical Allele Identifier: PA916059081

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000197522

RCV003133173

ClinVar Variation:

215967

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg909Gln	CA337273 NM_170724.3:c.2726G>A