Allele Registry

Canonical Allele Identifier: PA916059175

Gene: PKHD1 HGNC NCBI

ClinVar Variation Id: 188959

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Gly1123Ser	CA274186 NM_170724.3:c.3367G>A