ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139728300
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
913959
ClinVar RCV Id:
RCV001167853
RCV001169725
RCV003336308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Phe1756Tyr
CA375321398
NM_015046.7:c.5267T>A