ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679694
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519401
ClinVar RCV Id:
RCV000619833
RCV001049613
RCV001121973
RCV001127758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Arg526Cys
CA8565187
NM_001352775.2:c.1576C>T