ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827677635
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536636
ClinVar RCV Id:
RCV000645214
RCV001124845
RCV001124844
RCV003303043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Val232Ile
CA8565412
NM_001352773.2:c.694G>A