Canonical Allele Identifier: PA294033
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 135744
ClinVar RCV Id: RCV000122833 RCV000129351 RCV002223130 RCV000586568 RCV004551196
ClinVar Variation Id: 2005561
ClinVar RCV Id: RCV002825311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Thr761Ser
CA294031
NM_000051.4:c.2281A>T
CA6264991
NM_000051.4:c.2282C>G