Canonical Allele Identifier: PA286930
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127421
ClinVar RCV Id: RCV000115226 RCV000196722 RCV000212040 RCV000588663 RCV004549562 RCV003492463 RCV002225323
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Thr2059Ile
CA286928
NM_000051.4:c.6176C>T