ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580446233
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2448233
ClinVar RCV Id:
RCV003181547
RCV003778966
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Thr739Ala
CA8564982
NM_021991.4:c.2215A>G