ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678452
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201814
ClinVar RCV Id:
RCV000183488
RCV000688743
RCV001193379
RCV002345643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Val190Met
CA308476
NM_001352774.2:c.568G>A