Allele Registry

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Canonical Allele Identifier: PA2499251122

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1021926

ClinVar RCV Id: RCV001321767

ClinVar Variation Id: 1751284

ClinVar RCV Id: RCV002358271

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser2017Arg	CA382549972 NM_001351834.2:c.6049A>C CA382549986 NM_001351834.2:c.6051T>A CA382549988 NM_001351834.2:c.6051T>G