ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825126105
Gene: ATXN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000324.1:p.Pro247Ser
CA2478364
NM_000333.3:c.739C>T