ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827677454
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449201
ClinVar RCV Id:
RCV000524047
RCV000645198
RCV000617807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Gly92Cys
CA8565527
NM_001352773.2:c.274G>T