Canonical Allele Identifier: PA198112
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 187620
ClinVar RCV Id: RCV000167365 RCV000205586 RCV000483445 RCV000780912
ClinVar Variation Id: 2699837
ClinVar RCV Id: RCV003501062
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Phe1265Leu
CA198110
NM_000051.4:c.3793T>C
CA6265355
NM_000051.4:c.3795T>G
CA382524654
NM_000051.4:c.3795T>A