ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616174
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1341357
ClinVar RCV Id:
RCV001829275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Leu389del
CA2573053118
NM_001351527.2:c.1165_1167del