Canonical Allele Identifier: PA098244
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357423
ClinVar RCV Id: RCV000390646 RCV000521323 RCV001292483 RCV003409556 RCV002502379
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile2957Thr
CA3851503
NM_138694.3:c.8870T>C