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
NP_000042.3:p.His2254Gln
CA382555348
NM_000051.4:c.6762C>A
CA382555351
NM_000051.4:c.6762C>G