Canonical Allele Identifier: PA194739
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 186408
ClinVar RCV Id: RCV000166000 RCV000544101 RCV002478513
ClinVar Variation Id: 1754037
ClinVar RCV Id: RCV002364248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser2174Arg
CA194737
NM_000051.4:c.6522C>A
CA382554165
NM_000051.4:c.6520A>C
CA382554182
NM_000051.4:c.6522C>G