Allele Registry

Canonical Allele Identifier: PA645507772

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000348938

RCV000596106

RCV001336940

RCV001824136

RCV003418076

ClinVar Variation:

357445

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Arg669His	CA3853359 NM_138694.3:c.2006G>A