Canonical Allele Identifier: PA916031455
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 140915
ClinVar RCV Id: RCV000129173 RCV000211952 RCV000204231 RCV001704053 RCV001257469 RCV002225424 RCV001798434 RCV003492586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Arg250Gln
CA293997
NM_001351834.2:c.749G>A