ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826004032
Gene: ATXN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158253.1:p.Gln232_Gln235dup
CA2626174519
NM_001164781.2:c.705_706insCAGCAACAGCAG