Canonical Allele Identifier: PA916034280
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 186315
ClinVar RCV Id: RCV000165890 RCV000458599 RCV001770130 RCV003153448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His2430Arg
CA194451
NM_001351834.2:c.7289A>G