Allele Registry

Canonical Allele Identifier: PA192153

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000164949

RCV000669269

RCV001574162

RCV003153443

RCV003462158

ClinVar Variation:

185509

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Gly494Asp	CA192151 NM_000051.4:c.1481G>A