Allele Registry

Canonical Allele Identifier: PA916034691

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000223476

RCV000347894

RCV001030605

RCV001526927

RCV003441794

RCV003469000

RCV003491969

ClinVar Variation:

230416

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys2749Ile	CA6266322 NM_001351834.2:c.8246A>T