Allele Registry

Canonical Allele Identifier: PA286749

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115151

RCV000205470

RCV000515206

RCV000589762

RCV001798310

RCV002469010

RCV003460800

ClinVar Variation:

127346

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser759Gly	CA286747 NM_000051.4:c.2275A>G