ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645460178
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234601
ClinVar RCV Id:
RCV000221503
RCV000810541
RCV002390589
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Ala347Thr
CA8565314
NM_021991.4:c.1039G>A