Allele Registry

Canonical Allele Identifier: PA916031624

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000236757

RCV000460140

RCV000565895

ClinVar Variation:

246498

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Thr371Ile	CA10584322 NM_001351834.2:c.1112C>T