Canonical Allele Identifier: PA916032524
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 234132
ClinVar RCV Id: RCV000219464 RCV000704906 RCV001268471 RCV003469101
ClinVar Variation Id: 971880
ClinVar RCV Id: RCV001247764 RCV002255639 RCV003469477
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Trp1026Cys
CA10579081
NM_001351834.2:c.3078G>T
CA382514984
NM_001351834.2:c.3078G>C