Allele Registry

Canonical Allele Identifier: PA916033517

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000527814

RCV000563014

RCV003492090

ClinVar Variation:

453584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu1842Phe	CA228389689 NM_001351834.2:c.5524C>T