ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617246
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365341
ClinVar RCV Id:
RCV000335520
RCV000399643
RCV001509370
RCV001861344
RCV002402087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Val2579Ile
CA5296343
NM_001351527.2:c.7735G>A