ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671899
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468747
ClinVar RCV Id:
RCV000545274
RCV000618150
RCV001532951
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Arg577Cys
CA8565143
NM_021991.4:c.1729C>T