ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616496
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365361
ClinVar RCV Id:
RCV000307504
RCV000364537
RCV000518443
RCV001243853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Ile1039Met
CA10629238
NM_001351527.2:c.3117A>G