ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679018
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
163710
ClinVar RCV Id:
RCV000227308
RCV000150847
RCV001125575
RCV001125576
RCV000208373
RCV002415637
RCV002221461
RCV003149917
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Asn690Ser
CA176374
NM_001352774.2:c.2069A>G