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
ENSP00000388058.2:p.Arg1249Ser
CA382524174
ENST00000452508.7:c.3747A>C
CA382524175
ENST00000452508.7:c.3747A>T