Canonical Allele Identifier: PA916033392
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127401
ClinVar RCV Id: RCV000115206 RCV000204511 RCV000589866 RCV001262810 RCV002307394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Val1729Leu
CA286876
NM_001351834.2:c.5185G>C