ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827679575
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536630
ClinVar RCV Id:
RCV000645205
RCV002449040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339704.1:p.Asn421Ser
CA8565243
NM_001352775.2:c.1262A>G