Allele Registry

Canonical Allele Identifier: PA916034846

Gene: ATM HGNC NCBI

ClinVar Allele:

408249

ClinVar RCV:

RCV000479563

RCV000580976

RCV000819032

ClinVar Variation:

421983

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu2850Ser	CA16619261 NM_001351834.2:c.8549T>C