Allele Registry

Canonical Allele Identifier: PA645499207

Gene: ATM HGNC NCBI

ClinVar Allele:

398162

ClinVar RCV:

RCV000468521

RCV000574153

ClinVar Variation:

407587

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Lys388Arg	CA16613312 NM_000051.4:c.1163A>G