Canonical Allele Identifier: PA2827629722
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 3232284
ClinVar RCV Id: RCV004520967

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His683Gln
CA382537443
NM_001351834.2:c.2049C>A
CA382537445
NM_001351834.2:c.2049C>G