Canonical Allele Identifier: PA2499251143
Gene: ATM HGNC NCBI
ClinVar Allele:
994178
ClinVar RCV:
RCV001303854
ClinVar Variation:
1006762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Val182Ile
CA382527668
NM_001351834.2:c.544G>A