ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828714727
Gene: ATXN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364334.1:p.Ser216Leu
CA353429299
NM_001377405.1:c.647C>T