ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915988903
Gene: ATXN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128514
ClinVar RCV Id:
RCV000116484
RCV001588927
RCV003925128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158248.1:p.Thr85Ala
CA152012
NM_001164776.2:c.253A>G