ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826115004
Gene: ATXN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170858.1:p.Pro450Ser
CA2478541
NM_001177387.1:c.1348C>T