Canonical Allele Identifier: PA2827630052
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 3048
ClinVar RCV Id: RCV000003189 RCV000122818 RCV000128940 RCV000176968 RCV000224620 RCV001353116 RCV001357240 RCV002225258 RCV002221467
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338764.1:p.Ser49Cys
CA202190
NM_001351835.2:c.146C>G