Allele Registry

Canonical Allele Identifier: PA916031776

Gene: ATM HGNC NCBI

ClinVar Allele:

132795

ClinVar RCV:

RCV000115142

RCV000197378

RCV000211962

RCV000779759

RCV001762217

ClinVar Variation:

127338

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys482Gln	CA286729 NM_001351834.2:c.1444A>C