ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580150380
Gene: ATXN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121636.1:p.Ser376Leu
CA3645403
NM_001128164.2:c.1127C>T