Allele Registry

Canonical Allele Identifier: PA916059245

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000082549

RCV000282648

RCV001291850

RCV001530435

RCV001705799

ClinVar Variation:

96399

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ala1262Val	CA149508 NM_170724.3:c.3785C>T