Canonical Allele Identifier: PA916033080
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127392
ClinVar RCV Id: RCV000115197 RCV000122849 RCV000212017 RCV000590782 RCV001281009 RCV001355381 RCV001250427 RCV001798316 RCV004549553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Tyr1475Cys
CA286855
NM_001351834.2:c.4424A>G