Allele Registry

Canonical Allele Identifier: PA916034435

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000464306

RCV002393113

ClinVar Variation:

407665

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met2550Leu	CA16613129 NM_001351834.2:c.7648A>C CA382560923 NM_001351834.2:c.7648A>T