Allele Registry

Canonical Allele Identifier: PA248698

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000116425

RCV000119139

RCV000130979

RCV001357258

RCV001795159

RCV001798368

RCV002225336

ClinVar Variation:

128456

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu1420Phe	CA248696 NM_000051.4:c.4258C>T