Canonical Allele Identifier: PA916031340
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 184674
ClinVar RCV Id: RCV000163964 RCV000461451 RCV001778759
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Phe172Leu
CA189656
NM_001351834.2:c.514T>C
CA382527511
NM_001351834.2:c.516C>A
CA382527512
NM_001351834.2:c.516C>G