Canonical Allele Identifier: PA916031425
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 485170
ClinVar RCV Id: RCV000569541 RCV000796269 RCV002222556 RCV003493663
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Ser227Leu
CA6264666
NM_001351834.2:c.680C>T