ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679836
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000156095
RCV001850147
RCV004019870
ClinVar Variation:
179306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Ala645Thr
CA184163
NM_001352775.2:c.1933G>A