ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827677601
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
239107
ClinVar RCV Id:
RCV000234226
RCV000780357
RCV001124846
RCV001124847
RCV002354649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Arg203Cys
CA8565432
NM_001352773.2:c.607C>T