ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678438
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339703.1:p.Ser182Leu
CA137223
NM_001352774.2:c.545C>T