ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827679582
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409984
ClinVar RCV Id:
RCV000466222
RCV001753895
RCV002374789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Thr427Met
CA8565242
NM_001352775.2:c.1280C>T