Allele Registry

Canonical Allele Identifier: PA916058620

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000467466

RCV000681918

RCV001262841

RCV003401465

RCV003985354

ClinVar Variation:

406891

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile222Val	CA3853831 NM_170724.3:c.664A>G