ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680777
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000535229
RCV001764577
ClinVar Variation:
468749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339705.1:p.Pro710Ser
CA8565002
NM_001352776.2:c.2128C>T