ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580446116
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1757477
ClinVar RCV Id:
RCV002378396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Val239Ala
CA399501792
NM_021991.4:c.716T>C