ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827679697
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201825
ClinVar RCV Id:
RCV000183501
RCV000769488
RCV000767066
RCV001065041
RCV002399670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Val528Ile
CA308536
NM_001352775.2:c.1582G>A