Canonical Allele Identifier: PA2573203974
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1443133
ClinVar RCV Id: RCV001953341 RCV002386785
ClinVar Variation Id: 2774027
ClinVar RCV Id: RCV003585713
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Lys331Asn
CA382531288
NM_001351834.2:c.993G>C
CA382531296
NM_001351834.2:c.993G>T