Allele Registry

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Canonical Allele Identifier: PA645504498

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 232209

ClinVar RCV Id: RCV000214208 RCV000528261

ClinVar Variation Id: 827499

ClinVar RCV Id: RCV001027264

ClinVar Variation Id: 1357183

ClinVar RCV Id: RCV001878233 RCV002425122

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Phe2732Leu	CA10579286 NM_000051.4:c.8194T>C CA382562547 NM_000051.4:c.8196C>A CA382562548 NM_000051.4:c.8196C>G