Canonical Allele Identifier: PA1139727658
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 928222
ClinVar RCV Id: RCV001191994

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Trp2300Arg
CA382556932
NM_001351834.2:c.6898T>A
CA382556934
NM_001351834.2:c.6898T>C