Allele Registry

Canonical Allele Identifier: PA286752

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115152

RCV000122834

RCV000211979

RCV000515303

RCV000588896

RCV001355251

RCV001798311

ClinVar Variation:

127347

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Phe763Leu	CA286750 NM_000051.4:c.2289T>A CA382539690 NM_000051.4:c.2287T>C CA382539702 NM_000051.4:c.2289T>G