Canonical Allele Identifier: PA645503093
Gene: ATM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000042.3:p.Trp1710Ter
NM_000051.4:c.5129G>A

NM_000051.4:c.5130G>A

NM_000051.4:c.5130_5131delinsAC