Canonical Allele Identifier: PA224104
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96434
ClinVar RCV Id: RCV000082584 RCV000531951 RCV003398682 RCV002470760
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly2809Arg
CA224103
NM_138694.3:c.8425G>A
CA364441296
NM_138694.3:c.8425G>C