ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679775
Gene: JUP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Ser596Leu
CA290695706
NM_001352775.2:c.1787C>T