ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828053119
Gene: ATXN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344786.1:p.Gln176Leu
CA3645603
NM_001357857.2:c.527A>T