Canonical Allele Identifier: PA916058715
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458610
ClinVar RCV Id: RCV000545902 RCV001755812 RCV001731754 RCV002483376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly326Val
CA138918438
NM_170724.3:c.977G>T