ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678167
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1897535
ClinVar RCV Id:
RCV002572430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Met704Val
CA399490736
NM_001352773.2:c.2110A>G