Canonical Allele Identifier: PA658829742
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 551663
ClinVar RCV Id: RCV000666787

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.His3124Pro
CA364421229
NM_138694.3:c.9371A>C