Allele Registry

Canonical Allele Identifier: PA645503680

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000218229

RCV000274807

RCV000529492

ClinVar Variation:

231615

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Lys2148Arg	CA6265935 NM_000051.4:c.6443A>G