Allele Registry

Canonical Allele Identifier: PA645504525

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000217852

RCV001301600

ClinVar Variation:

230427

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu2750Ile	CA10579291 NM_000051.4:c.8248T>A