ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993932
Gene: ATXN7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128519
ClinVar RCV Id:
RCV000116489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170858.1:p.Lys264Arg
CA152023
NM_001177387.1:c.791A>G