Allele Registry

Canonical Allele Identifier: PA916060091

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000509311

RCV000594183

RCV001844835

RCV002470891

RCV002527385

ClinVar Variation:

441087

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile3309Val	CA3851291 NM_170724.3:c.9925A>G