Canonical Allele Identifier: PA916031336
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 186214
ClinVar RCV Id: RCV000165767 RCV000692509 RCV003329246
ClinVar Variation Id: 3019938
ClinVar RCV Id: RCV003875049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Val170Leu
CA194172
NM_001351834.2:c.508G>T
CA382527468
NM_001351834.2:c.508G>C