ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031118
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536388
ClinVar RCV Id:
RCV000644827
RCV002388094
RCV003482289
RCV004533375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Phe2583Ile
CA5296362
NM_001351528.2:c.7747T>A