Allele Registry

Canonical Allele Identifier: PA916059983

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000004326

RCV001753399

ClinVar Variation:

4110

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ser3018Phe	CA253010 NM_170724.3:c.9053C>T