Allele Registry

Canonical Allele Identifier: PA916059359

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000350289

RCV000765888

RCV003409420

ClinVar Variation:

289885

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Glu1483Lys	CA3852721 NM_170724.3:c.4447G>A