Allele Registry

Canonical Allele Identifier: PA916034223

Gene: ATM HGNC NCBI

ClinVar Allele:

371908

ClinVar RCV:

RCV000436625

RCV000580593

RCV000628084

ClinVar Variation:

393261

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser2389Leu	CA16606117 NM_001351834.2:c.7166C>T