Canonical Allele Identifier: PA2827630283
Gene: ATM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338764.1:p.Lys112Asn
CA382521862
NM_001351835.2:c.336G>T
CA382521863
NM_001351835.2:c.336G>C