ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616069
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365376
ClinVar RCV Id:
RCV000350037
RCV000399144
RCV000513524
RCV001080659
RCV001848728
RCV002338960
RCV003317200
RCV004530478
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Leu158Val
CA5298036
NM_001351527.2:c.472T>G