Canonical Allele Identifier: PA2580203912
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1737311
ClinVar RCV Id: RCV002321230

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Leu1348Phe
CA382527799
NM_001351834.2:c.4044G>C
CA382527801
NM_001351834.2:c.4044G>T