ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830046813
Gene: ATXN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128511
ClinVar RCV Id:
RCV000116481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_109376.1:p.Val157Met
CA152005
NM_030660.5:c.469G>A