ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827678986
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401992
ClinVar RCV:
RCV000757415
RCV001079037
RCV001127665
RCV001127666
RCV002418404
ClinVar Variation:
409985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Arg661Gln
CA8565056
NM_001352774.2:c.1982G>A