ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827677978
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
851774
ClinVar RCV Id:
RCV001056236
RCV002400321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Val542Ile
CA8565178
NM_001352773.2:c.1624G>A