Allele Registry

Canonical Allele Identifier: PA916034629

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115261

RCV000212078

RCV000464258

ClinVar Variation:

127455

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val2705Leu	CA287009 NM_001351834.2:c.8113G>T CA382562143 NM_001351834.2:c.8113G>C