Canonical Allele Identifier: PA916059733
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499806
ClinVar RCV Id: RCV000592239 RCV000668244 RCV001810463 RCV001844840
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Arg2573Cys
CA3851871
NM_170724.3:c.7717C>T