Canonical Allele Identifier: PA1139729235
Gene: ATM HGNC NCBI
ClinVar RCV:
RCV001049366
ClinVar Variation:
846136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His2554Arg
CA501111
NM_001351834.2:c.7661A>G