ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662283
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448339
ClinVar RCV Id:
RCV000644817
RCV002358400
RCV002473039
RCV004541618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Gln2000Glu
CA5296854
NM_015046.7:c.5998C>G