Canonical Allele Identifier: PA157133
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127399
ClinVar RCV Id: RCV000115204 RCV000119119 RCV000120143 RCV000679127 RCV001354566 RCV001798318
ClinVar Variation Id: 1745168
ClinVar RCV Id: RCV002335846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser1691Arg
CA157131
NM_000051.4:c.5071A>C
CA382540574
NM_000051.4:c.5073T>A
CA382540576
NM_000051.4:c.5073T>G