Allele Registry

Canonical Allele Identifier: PA916031956

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000129681

RCV000590311

RCV001079129

RCV001356176

RCV001731482

RCV003149894

RCV004551246

ClinVar Variation:

141251

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val630Met	CA164912 NM_001351834.2:c.1888G>A