ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580239698
Gene: ATXN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364335.1:p.Pro450Ser
CA2478541
NM_001377406.1:c.1348C>T