Canonical Allele Identifier: PA916058852
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291029
ClinVar RCV Id: RCV000361497 RCV000377159 RCV001336939 RCV001844827 RCV004021315
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Arg559Gln
CA3853487
NM_170724.3:c.1676G>A