ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678864
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2448239
ClinVar RCV Id:
RCV003181552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Val560Met
CA399493194
NM_001352774.2:c.1678G>A