Canonical Allele Identifier: PA916032125
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127347
ClinVar RCV Id: RCV000115152 RCV000122834 RCV000211979 RCV000515303 RCV000588896 RCV001355251 RCV001798311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Phe763Leu
CA286750
NM_001351834.2:c.2289T>A
CA382539690
NM_001351834.2:c.2287T>C
CA382539702
NM_001351834.2:c.2289T>G