ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827616417
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468495
ClinVar RCV Id:
RCV000552679
RCV001165886
RCV001165887
RCV002431641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Ser906Leu
CA5297546
NM_001351527.2:c.2717C>T