Canonical Allele Identifier: PA193672
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 186032
ClinVar Variation Id: 1628755
ClinVar RCV Id: RCV002116295

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser1455Arg
CA193670
NM_000051.4:c.4365T>A
CA382532056
NM_000051.4:c.4363A>C
CA382532063
NM_000051.4:c.4365T>G