Allele Registry

Canonical Allele Identifier: PA916059469

Gene: PKHD1 HGNC NCBI

ClinVar Variation Id: 496898

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ser1833Leu	CA3852501 NM_170724.3:c.5498C>T