Canonical Allele Identifier: PA2499250937
Gene: ATM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His183Gln
CA382527690
NM_001351834.2:c.549T>A
CA382527692
NM_001351834.2:c.549T>G