Allele Registry

Canonical Allele Identifier: PA916031819

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000164896

RCV001349973

ClinVar Variation:

185468

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu516Ser	CA192036 NM_001351834.2:c.1547T>C