Canonical Allele Identifier: PA658807682
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501349

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr721Met
CA3853314
NM_138694.3:c.2162C>T