Allele Registry

Canonical Allele Identifier: PA916059193

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000153718

RCV000168029

RCV000224414

RCV001291851

RCV001449932

RCV001507102

ClinVar Variation:

167489

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Tyr1136Cys	CA180312 NM_170724.3:c.3407A>G