ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426459
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365343
ClinVar RCV Id:
RCV000266732
RCV000361458
RCV002524586
RCV002379256
RCV004546488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Leu2469Pro
CA5296398
NM_015046.7:c.7406T>C