Allele Registry

Canonical Allele Identifier: PA916033452

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000561302

RCV000799502

ClinVar Variation:

482614

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Glu1776Lys	CA382543034 NM_001351834.2:c.5326G>A