Allele Registry

Canonical Allele Identifier: PA2573099731

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV001844890

RCV002539634

ClinVar Variation:

1255561

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg2840His	CA3851605 NM_170724.3:c.8519G>A