Canonical Allele Identifier: PA2830046829
Gene: ATXN3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_109376.1:p.Gln248_Gln250dup
CA2626174522
NM_030660.5:c.750_751insCAACAGCAG
CA2626174538
NM_030660.5:c.750_751insCAGCAACAG