ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617504
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2289
ClinVar RCV Id:
RCV000002379
RCV000644828
RCV000724322
RCV000789615
RCV003233065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Leu389Ser
CA252183
NM_001351528.2:c.1166T>C