ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828714735
Gene: ATXN7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208955
ClinVar RCV Id:
RCV000201327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364334.1:p.Val282Met
CA279204
NM_001377405.1:c.844G>A