Allele Registry

Canonical Allele Identifier: PA645507759

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000361497

RCV000377159

RCV001336939

RCV001844827

RCV004021315

ClinVar Variation:

291029

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg559Gln	CA3853487 NM_138694.3:c.1676G>A