Canonical Allele Identifier: PA294266
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142126
ClinVar RCV Id: RCV000130965 RCV000197688 RCV000212034 RCV000515322 RCV001357333 RCV002288644 RCV001269498 RCV003390822 RCV003483502 RCV003492611 RCV003492610 RCV004551259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Lys1964Glu
CA294264
NM_000051.4:c.5890A>G