Allele Registry

Canonical Allele Identifier: PA916032213

Gene: ATM HGNC NCBI

ClinVar Allele:

151358

ClinVar RCV:

RCV000130241

RCV000168264

RCV000483469

RCV001174859

ClinVar Variation:

141644

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg832His	CA166023 NM_001351834.2:c.2495G>A