Allele Registry

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Canonical Allele Identifier: PA916032044

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 246250

ClinVar RCV Id: RCV000236013 RCV003607275

ClinVar Variation Id: 2015863

ClinVar RCV Id: RCV002843612

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly696Arg	CA10584328 NM_001351834.2:c.2086G>A CA382537606 NM_001351834.2:c.2086G>C