ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829795738
Gene: SETX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Glu2614Lys
CA5296306
NM_015046.7:c.7840G>A