ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829369061
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964094
ClinVar RCV Id:
RCV001238242
RCV002402748
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Ala571Thr
CA399493004
NM_002230.4:c.1711G>A