ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA176413
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
163726
ClinVar RCV Id:
RCV000150854
RCV001071020
RCV002453485
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Pro119Leu
CA176409
NM_021991.4:c.356C>T