ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827678224
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1719394
ClinVar RCV Id:
RCV002303692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Gln17Lys
CA399507207
NM_001352774.2:c.49C>A