Canonical Allele Identifier: PA916031541
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142130
ClinVar RCV Id: RCV000130970 RCV000470878 RCV000482073 RCV003467162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Leu312Phe
CA167475
NM_001351834.2:c.936A>C
CA382530732
NM_001351834.2:c.936A>T