ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829369005
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571627
ClinVar RCV Id:
RCV000692822
RCV001771959
RCV003380681
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Arg540Cys
CA8565182
NM_002230.4:c.1618C>T