Allele Registry

Canonical Allele Identifier: PA168506

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000122874

RCV000131631

RCV000237090

RCV001269134

RCV001798397

RCV002288612

RCV002483232

RCV003483488

ClinVar Variation:

135770

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Val2115Ile	CA168504 NM_000051.4:c.6343G>A