ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827677439
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2054695
ClinVar RCV Id:
RCV002932907
RCV004067049
RCV004526211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Ala80Thr
CA290700938
NM_001352773.2:c.238G>A