Canonical Allele Identifier: PA2827629104
Gene: ATM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Lys66Asn
CA382521214
NM_001351834.2:c.198A>C
CA382521231
NM_001351834.2:c.198A>T