ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825125907
Gene: ATXN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000323.2:p.Arg171His
CA3645607
NM_000332.4:c.512G>A