ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679853
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409985
ClinVar RCV Id:
RCV000757415
RCV001079037
RCV001127665
RCV001127666
RCV002418404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Arg661Gln
CA8565056
NM_001352775.2:c.1982G>A