ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830157231
Gene: UPF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3186770
ClinVar RCV Id:
RCV004482151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542166.1:p.Thr260Ile
CA5407241
NM_080599.3:c.779C>T