Allele Registry

Canonical Allele Identifier: PA916032453

Gene: ATM HGNC NCBI

ClinVar Allele:

132819

ClinVar RCV:

RCV000115167

RCV000119220

RCV000211991

RCV000584904

RCV001356395

RCV001798313

ClinVar Variation:

127362

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser978Pro	CA286788 NM_001351834.2:c.2932T>C