Allele Registry

Canonical Allele Identifier: PA916058758

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000633428

RCV000681916

RCV001784205

ClinVar Variation:

528296

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Arg375Trp	CA3853636 NM_170724.3:c.1123C>T