Canonical Allele Identifier: PA916058914
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189098

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Met627Lys
CA274375
NM_170724.3:c.1880T>A