Canonical Allele Identifier: PA916033755
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127416
ClinVar RCV Id: RCV000115221 RCV000120151 RCV000122864 RCV000513642 RCV001253480 RCV001356569 RCV001798320 RCV002225322 RCV002225321
ClinVar Variation Id: 2127852
ClinVar RCV Id: RCV003036051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Gly2023Arg
CA157150
NM_001351834.2:c.6067G>A
CA382550073
NM_001351834.2:c.6067G>C