ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616676
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468505
ClinVar RCV Id:
RCV000549234
RCV001167927
RCV001167928
RCV001288399
RCV002323994
RCV004541717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Ser1366Pro
CA5297271
NM_001351527.2:c.4096T>C