ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827681182
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
855662
ClinVar RCV Id:
RCV001060976
RCV002445322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.Leu295Pro
CA399500634
NM_001352777.2:c.884T>C