Allele Registry

Canonical Allele Identifier: PA916059290

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000264443

RCV000374359

RCV002470838

RCV003949917

ClinVar Variation:

288471

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Asp1337Asn	CA3852799 NM_170724.3:c.4009G>A