Allele Registry

Canonical Allele Identifier: PA916059883

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000179136

RCV001854440

ClinVar Variation:

96433

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Cys2803Tyr	CA224101 NM_170724.3:c.8408G>A