Canonical Allele Identifier: PA916059359
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Glu1483Lys
CA3852721
NM_170724.3:c.4447G>A