ClinGen Allele Registry
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Canonical Allele Identifier:
PA243065
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196190
ClinVar RCV Id:
RCV000176952
RCV002485152
RCV002517706
RCV004020100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Arg1081His
CA243064
NM_138694.3:c.3242G>A