Canonical Allele Identifier: PA645501683
Gene: ATM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000042.3:p.Leu1107Ter
NM_000051.4:c.[3315del;3317G>C;3322C>A]

NM_000051.4:c.[3315del;3317G>C;3322C>G]

NM_000051.4:c.3320T>A

NM_000051.4:c.3320T>G

NM_000051.4:c.3320_3323del