Canonical Allele Identifier: PA2573203919
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1472974
ClinVar RCV Id: RCV001977320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Ser2375Arg
CA382559446
NM_001351834.2:c.7123A>C
CA382559452
NM_001351834.2:c.7125T>A
CA382559453
NM_001351834.2:c.7125T>G