Canonical Allele Identifier: PA916059710
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197555

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Thr2436Ile
CA245788
NM_170724.3:c.7307C>T