ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031518
Gene: ATM
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001338763.1:p.Lys293Ter
NM_001351834.2:c.[873del;876G>C;878A>T]
NM_001351834.2:c.[873del;876G>C;878A>T;88...
NM_001351834.2:c.[873del;876G>C;878A>T;88...
NM_001351834.2:c.877A>T