Canonical Allele Identifier: PA913202777
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 596361

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Asn3191His
CA3851369
NM_138694.3:c.9571A>C