ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826003960
Gene: ATXN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158251.1:p.Gln181_Gln184dup
CA2626174519
NM_001164779.2:c.552_553insCAGCAACAGCAG