ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827679741
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
892036
ClinVar RCV Id:
RCV001127755
RCV001127754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Ile569Leu
CA399493029
NM_001352775.2:c.1705A>C