ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: JUP
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_006721936.1:p.Met697Leu
XM_006721873.1:c.2089A>C
XM_006721873.1:c.2089A>T