Canonical Allele Identifier: PA916032904
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 221142
ClinVar RCV Id: RCV000206293 RCV000221742 RCV000479019 RCV003468966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Gln1331His
CA350344
NM_001351834.2:c.3993G>C
CA382526301
NM_001351834.2:c.3993G>T