Canonical Allele Identifier: PA916034775
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 453730
ClinVar RCV Id: RCV000545748 RCV002448585
ClinVar Variation Id: 1481088
ClinVar RCV Id: RCV002022214 RCV002442984 RCV003994371 RCV004042438
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Met2806Ile
CA6266356
NM_001351834.2:c.8418G>T
CA382516874
NM_001351834.2:c.8418G>C
CA382516878
NM_001351834.2:c.8418G>A