Allele Registry

Canonical Allele Identifier: PA916060013

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000224584

RCV000707695

RCV001844820

ClinVar Variation:

235711

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Asp3088Asn	CA3851421 NM_170724.3:c.9262G>A