Canonical Allele Identifier: PA916059586
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357434
ClinVar RCV Id: RCV000404946
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ala2159Thr
CA3852254
NM_170724.3:c.6475G>A