Canonical Allele Identifier: PA916059003
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498544

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Thr752Met
CA3853294
NM_170724.3:c.2255C>T