ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678018
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1684059
ClinVar RCV Id:
RCV002244579
RCV003774697
RCV003164347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Arg577His
CA290695998
NM_001352773.2:c.1730G>A