ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829369036
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
239104
ClinVar RCV Id:
RCV000231900
RCV000439893
RCV000617763
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002221.1:p.Met556Thr
CA8565152
NM_002230.4:c.1667T>C