Allele Registry

Canonical Allele Identifier: PA098333

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

275214

ClinVar RCV:

RCV000288236

RCV000317551

RCV001844826

RCV002509355

RCV003469249

ClinVar Variation:

290977

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ile757Leu	CA3853291 NM_138694.3:c.2269A>C