ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825031508
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1785498
ClinVar RCV Id:
RCV002422247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys693Tyr
CA382537557
NM_000051.4:c.2078G>A