Allele Registry

Canonical Allele Identifier: PA916033801

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000167214

RCV000523725

RCV000628069

RCV003330526

RCV003483552

ClinVar Variation:

187481

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Tyr2049Asp	CA197753 NM_001351834.2:c.6145T>G