Allele Registry

Canonical Allele Identifier: PA916058791

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000415990

RCV000669988

RCV001844830

RCV003922678

ClinVar Variation:

374479

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Gly448Arg	CA3853582 NM_170724.3:c.1342G>C