Canonical Allele Identifier: PA192931
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 185780
ClinVar RCV Id: RCV000165266 RCV000470788 RCV001356838 RCV001721071 RCV002288745 RCV004552903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ile550Val
CA192929
NM_000051.4:c.1648A>G