ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825663904
Gene: ATXN7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000116488
ClinVar Variation:
128518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121621.2:p.Val717Met
CA152021
NM_001128149.3:c.2149G>A