Allele Registry

Canonical Allele Identifier: PA2830258168

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV001844890

RCV002539634

ClinVar Variation:

1255561

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg2840His	CA3851605 NM_138694.3:c.8519G>A