Canonical Allele Identifier: PA645504088
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 236779
ClinVar RCV Id: RCV000227156 RCV003454687
ClinVar Variation Id: 558043
ClinVar RCV Id: RCV000674257 RCV002406517 RCV003316796 RCV003332225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Glu2596Asp
CA501110
NM_000051.4:c.7788G>C
CA10582857
NM_000051.4:c.7788G>T