Canonical Allele Identifier: PA1139734601
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 846132
ClinVar RCV Id: RCV001049360 RCV002416374
ClinVar Variation Id: 1486360
ClinVar RCV Id: RCV002003538 RCV002423196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His674Gln
CA382537351
NM_001351834.2:c.2022C>G
CA382537352
NM_001351834.2:c.2022C>A