Canonical Allele Identifier: PA916034350
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 453685
ClinVar RCV Id: RCV000562572 RCV000779799 RCV000553049 RCV003470685 RCV003148773
ClinVar Variation Id: 629858
ClinVar RCV Id: RCV000774649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Met2482Thr
CA382560318
NM_001351834.2:c.7445T>C
CA913188485
NM_001351834.2:c.7445_7446delinsCT