Allele Registry

Canonical Allele Identifier: PA916032249

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000216310

RCV000545371

ClinVar Variation:

231957

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met847Leu	CA10579059 NM_001351834.2:c.2539A>T CA382543602 NM_001351834.2:c.2539A>C