ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830046831
Gene: ATXN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_109376.1:p.Gln247_Gln250dup
CA2626174519
NM_030660.5:c.750_751insCAGCAACAGCAG