ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827679222
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191676
ClinVar RCV Id:
RCV000171964
RCV000678710
RCV000705755
RCV002453594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Glu118Lys
CA237235
NM_001352775.2:c.352G>A