ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915988892
Gene: ATXN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128513
ClinVar RCV Id:
RCV000116483
RCV001657702
RCV003925127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158248.1:p.Lys82Thr
CA152010
NM_001164776.2:c.245A>C