Allele Registry

Canonical Allele Identifier: PA916059268

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000587125

RCV001274854

RCV002483572

RCV004024688

ClinVar Variation:

496520

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg1280His	CA3852825 NM_170724.3:c.3839G>A