Canonical Allele Identifier: PA243065
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196190
ClinVar RCV Id: RCV000176952 RCV002485152 RCV002517706 RCV004020100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg1081His
CA243064
NM_138694.3:c.3242G>A