ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573203054
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1495797
ClinVar RCV Id:
RCV002015366
RCV002346263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser1816Thr
CA382544194
NM_001351834.2:c.5447G>C