Allele Registry

Canonical Allele Identifier: PA645504088

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000227156

RCV000674257

RCV002406517

RCV003316796

RCV003332225

RCV003454687

ClinVar Variation:

236779

558043

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu2596Asp	CA501110 NM_000051.4:c.7788G>C CA10582857 NM_000051.4:c.7788G>T