Allele Registry

Canonical Allele Identifier: PA658800999

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000628206

RCV000779770

RCV001311783

RCV002257863

RCV003459481

ClinVar Variation:

524424

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asn246Ser	CA6264676 NM_000051.4:c.737A>G