ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827678194
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002051454
ClinVar Variation:
1350989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Tyr729Asn
CA399490384
NM_001352773.2:c.2185T>A