Canonical Allele Identifier: PA916060046
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285245
ClinVar RCV Id: RCV000317863 RCV000392284 RCV003441833 RCV003920094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.His3160Tyr
CA3851385
NM_170724.3:c.9478C>T