Allele Registry

Canonical Allele Identifier: PA916032563

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000479904

RCV000698974

RCV001018886

RCV002481509

ClinVar Variation:

419747

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Pro1054His	CA16619155 NM_001351834.2:c.3161C>A