ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915988895
Gene: ATXN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128512
ClinVar RCV Id:
RCV000116482
RCV001610398
RCV003925126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158248.1:p.Lys82Glu
CA152007
NM_001164776.2:c.244A>G