Canonical Allele Identifier: PA645503135
Gene: ATM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser1748Arg
CA10579174
NM_000051.4:c.5242A>C
CA382542430
NM_000051.4:c.5244T>A
CA382542431
NM_000051.4:c.5244T>G