Allele Registry

Canonical Allele Identifier: PA916033464

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000506669

RCV000560983

RCV001308385

ClinVar Variation:

439419

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Phe1786Ser	CA382543300 NM_001351834.2:c.5357T>C