ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827677997
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1777987
ClinVar RCV Id:
RCV002414566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Gly562Asp
CA399493150
NM_001352773.2:c.1685G>A