ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580446217
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1785788
ClinVar RCV Id:
RCV002424100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Ala699Ser
CA8565005
NM_021991.4:c.2095G>T