Canonical Allele Identifier: PA098746
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4115
ClinVar RCV Id: RCV000004331 RCV000788517 RCV003460426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val3471Gly
CA253016
NM_138694.3:c.10412T>G