Canonical Allele Identifier: PA916060052
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357416
ClinVar RCV Id: RCV000376015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Val3182Ile
CA3851376
NM_170724.3:c.9544G>A