ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617313
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2290
ClinVar RCV Id:
RCV000002380
RCV000414273
RCV000789614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Thr3Ile
CA252185
NM_001351528.2:c.8C>T