Canonical Allele Identifier: PA916034190
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 628285
ClinVar RCV Id: RCV000772700 RCV000817341
ClinVar Variation Id: 826819
ClinVar RCV Id: RCV001026004 RCV001832363 RCV003461412
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Met2357Ile
CA6266055
NM_001351834.2:c.7071G>A
CA382559098
NM_001351834.2:c.7071G>C
CA382559100
NM_001351834.2:c.7071G>T