ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679922
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
860683
ClinVar RCV Id:
RCV001067040
RCV002429724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Met718Thr
CA8564996
NM_001352775.2:c.2153T>C