ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827681680
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2448234
ClinVar RCV Id:
RCV003181548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Pro738Ser
CA399490298
NM_001352777.2:c.2212C>T