ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827681210
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201833
ClinVar RCV Id:
RCV000183511
RCV001085979
RCV003225037
RCV004020221
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Arg320Cys
CA308576
NM_001352777.2:c.958C>T