Allele Registry

Canonical Allele Identifier: PA916031856

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000165266

RCV000470788

RCV001356838

RCV001721071

RCV002288745

RCV004552903

ClinVar Variation:

185780

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile550Val	CA192929 NM_001351834.2:c.1648A>G