Allele Registry

Canonical Allele Identifier: PA916031682

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115136

RCV000119195

RCV000120171

RCV000590142

RCV001356635

RCV001798307

RCV004549538

ClinVar Variation:

127332

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val410Ala	CA157210 NM_001351834.2:c.1229T>C