ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825654497
Gene: ATXN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121168.1:p.Gln287_Gln290dup
CA2626174519
NM_001127696.2:c.870_871insCAGCAACAGCAG