Allele Registry

Canonical Allele Identifier: PA916033777

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000464903

RCV001024909

RCV001224213

ClinVar Variation:

417621

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Glu2039Val	CA16616706 NM_001351834.2:c.6116A>T