Canonical Allele Identifier: PA2741866298
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2679720
ClinVar RCV Id: RCV003466628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His683Leu
CA382537441
NM_001351834.2:c.2048A>T