ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616641
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2614391
ClinVar RCV Id:
RCV003364829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Arg1302Trp
CA5297308
NM_001351527.2:c.3904C>T