Allele Registry

Canonical Allele Identifier: PA916034160

Gene: ATM HGNC NCBI

ClinVar Allele:

132892

ClinVar RCV:

RCV000115240

RCV000206376

RCV000590099

RCV000855568

RCV004549568

ClinVar Variation:

127435

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Thr2333Ile	CA286960 NM_001351834.2:c.6998C>T