ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827677845
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Thr427Met
CA8565242
NM_001352773.2:c.1280C>T