Canonical Allele Identifier: PA658669731
Gene: ATM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Val1944Leu
CA382548416
NM_000051.4:c.5830G>C
CA382548417
NM_000051.4:c.5830G>T