ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678182
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1786652
ClinVar RCV Id:
RCV002430617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Met716Val
CA399490578
NM_001352773.2:c.2146A>G