Allele Registry

Canonical Allele Identifier: PA180302

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000153707

RCV000169053

RCV001292335

RCV001449939

RCV001706025

ClinVar Variation:

167479

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Asp3139Tyr	CA180301 NM_138694.3:c.9415G>T