Allele Registry

Canonical Allele Identifier: PA916033023

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000168111

RCV000220668

RCV000478130

RCV000780906

RCV003468825

ClinVar Variation:

188194

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys1435Thr	CA334280 NM_001351834.2:c.4304A>C