Allele Registry

Canonical Allele Identifier: PA286860

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115198

RCV000465699

RCV000679122

RCV003114258

RCV004549554

ClinVar Variation:

127393

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Lys1536Glu	CA286858 NM_000051.4:c.4606A>G