Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: ATM HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000435747.1:p.Ser475Ter	CA197002 ENST00000527805.5:c.1424C>G CA382534019 ENST00000527805.5:c.1424C>A