ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678404
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1379750
ClinVar RCV Id:
RCV001892069
RCV003487013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Ala162Val
CA8565460
NM_001352774.2:c.485C>T