ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499238695
Gene: ATXN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121636.1:p.Ser186Cys
CA3645603
NM_001128164.2:c.556A>T