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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502563.1:p.Glu249Asp
CA382530487
ENST00000675595.1:c.747A>C
CA382530488
ENST00000675595.1:c.747A>T