Allele Registry

Canonical Allele Identifier: PA916035042

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000467643

RCV000570075

RCV001312732

RCV002374773

RCV003329282

RCV003463883

ClinVar Variation:

407598

478938

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Phe3002Leu	CA16613196 NM_001351834.2:c.9006C>A CA382530890 NM_001351834.2:c.9004T>C CA382530924 NM_001351834.2:c.9006C>G