Canonical Allele Identifier: PA3077691757
Gene: ATM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Met1040Leu
CA382515198
NM_000051.4:c.3118A>C
CA382515206
NM_000051.4:c.3118A>T