ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139715304
Gene: ATXN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004984.2:p.Gln302_Gln305dup
CA2626174519
NM_004993.6:c.915_916insCAGCAACAGCAG