Allele Registry

Canonical Allele Identifier: PA916033590

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000572229

RCV001208305

RCV003227795

RCV003459340

ClinVar Variation:

482572

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.His1895Asn	CA382547751 NM_001351834.2:c.5683C>A