Allele Registry

Canonical Allele Identifier: PA916059151

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000176952

RCV002485152

RCV002517706

RCV004020100

ClinVar Variation:

196190

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg1081His	CA243064 NM_170724.3:c.3242G>A