ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: ATM
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000042.3:p.Glu560Ter
NM_000051.4:c.[1673dup;1675A>T;1677A>T]
NM_000051.4:c.[1673dup;1675A>T;1677A>T;16...
NM_000051.4:c.1678G>T