Canonical Allele Identifier: PA3057579228
Gene: ATM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Gln2724His
CA382562497
NM_001351834.2:c.8172A>C
CA382562498
NM_001351834.2:c.8172A>T