Allele Registry

Canonical Allele Identifier: PA916033995

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000215163

RCV000235792

RCV000461049

ClinVar Variation:

231987

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val2193Ile	CA6265988 NM_001351834.2:c.6577G>A