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
ENSP00000469471.1:p.Ser83_Ala135del	CA382521554 ENST00000601453.2:c.248C>G CA382521556 ENST00000601453.2:c.248C>A