ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580150343
Gene: ATXN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121621.2:p.Ser71Leu
CA353429299
NM_001128149.3:c.212C>T