Allele Registry

Canonical Allele Identifier: PA645507785

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000472049

RCV001844832

RCV002481409

ClinVar Variation:

406884

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ile757Val	CA3853290 NM_138694.3:c.2269A>G