Allele Registry

Canonical Allele Identifier: PA916059627

Gene: PKHD1 HGNC NCBI

ClinVar RCV:

RCV000474720

RCV002481410

ClinVar Variation:

406889

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Ile2303Phe	CA3852124 NM_170724.3:c.6907A>T