ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827680443
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_001339705.1:p.Asn421Ser
CA8565243
NM_001352776.2:c.1262A>G