Canonical Allele Identifier: PA2827617407
Gene: SETX HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Asp182Glu
CA375349736
NM_001351528.2:c.546C>G
CA375349737
NM_001351528.2:c.546C>A