ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139727584
Gene: SETX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Ala289Val
CA375347213
NM_015046.7:c.866C>T