Allele Registry

Canonical Allele Identifier: PA2827628976

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000219832

RCV000536856

ClinVar Variation:

229721

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.His17Asn	CA6264501 NM_001351834.2:c.49C>A