ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827679042
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468749
ClinVar RCV Id:
RCV000535229
RCV001764577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Pro710Ser
CA8565002
NM_001352774.2:c.2128C>T