ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827678886
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496450
ClinVar RCV Id:
RCV000588691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Arg577Leu
CA399492914
NM_001352774.2:c.1730G>T