Allele Registry

Canonical Allele Identifier: PA916035020

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000219819

RCV000691686

ClinVar Variation:

231819

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu2984Met	CA6266495 NM_001351834.2:c.8950C>A