Allele Registry

Canonical Allele Identifier: PA248266

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000180702

RCV000633437

RCV001810434

RCV001844818

RCV003917687

ClinVar Variation:

199185

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Glu218Lys	CA248265 NM_138694.3:c.652G>A