Allele Registry

Canonical Allele Identifier: PA355280

Gene: ATM HGNC NCBI

ClinVar Allele:

222097

ClinVar RCV:

RCV000204272

RCV000255601

RCV000574550

RCV001270952

RCV003334385

RCV004547473

ClinVar Variation:

219787

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu2039Lys	CA348515 NM_000051.4:c.6115G>A