Allele Registry

Canonical Allele Identifier: PA658669570

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000527814

RCV000563014

RCV003492090

ClinVar Variation:

453584

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu1842Phe	CA228389689 NM_000051.4:c.5524C>T