ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580446107
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002368966
RCV003776241
ClinVar Variation:
1752992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Leu212Val
CA8565428
NM_021991.4:c.634C>G