ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616829
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536377
ClinVar RCV Id:
RCV000644814
RCV001849022
RCV002334141
RCV002473088
RCV003233772
RCV003233771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.His1660Arg
CA5297100
NM_001351527.2:c.4979A>G