ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139749328
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
958279
ClinVar RCV Id:
RCV001231418
RCV002429986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Asp731Asn
CA8564990
NM_021991.4:c.2191G>A