Canonical Allele Identifier: PA916033764
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 133628
ClinVar RCV Id: RCV000122865 RCV000120150 RCV000129192 RCV001357876 RCV001573283 RCV003149823 RCV002225362 RCV003315727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Ile2030Val
CA157147
NM_001351834.2:c.6088A>G