Canonical Allele Identifier: PA2573099777
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1326142
ClinVar RCV Id: RCV001786203

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.His3128Pro
CA364421192
NM_170724.3:c.9383A>C