Allele Registry

Canonical Allele Identifier: PA275272

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000224543

RCV000765886

RCV001844816

RCV002282003

RCV003917663

ClinVar Variation:

197475

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Gly2285Glu	CA275271 NM_138694.3:c.6854G>A