Canonical Allele Identifier: PA2825030322
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2768992
ClinVar RCV Id: RCV003500425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Arg173Thr
CA382527521
NM_000051.4:c.518G>C