Allele Registry

Canonical Allele Identifier: PA098565

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000004326

RCV001753399

ClinVar Variation:

4110

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Ser3018Phe	CA253010 NM_138694.3:c.9053C>T