Canonical Allele Identifier: PA2825034940
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2057744
ClinVar RCV Id: RCV002942071 RCV003358024
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Thr2228Ile
CA382554889
NM_000051.4:c.6683C>T