ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616692
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1738588
ClinVar RCV Id:
RCV002327799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Cys1398Phe
CA5297252
NM_001351527.2:c.4193G>T