Allele Registry

Canonical Allele Identifier: PA916031651

Gene: ATM HGNC NCBI

ClinVar Allele:

398162

ClinVar RCV:

RCV000468521

RCV000574153

ClinVar Variation:

407587

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys388Arg	CA16613312 NM_001351834.2:c.1163A>G