Canonical Allele Identifier: PA916033061
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127387
ClinVar RCV Id: RCV000115192 RCV000196015 RCV000515274 RCV000586694 RCV001249852 RCV001824608 RCV003460803 RCV004549552
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Gly1459Arg
CA286846
NM_001351834.2:c.4375G>A
CA382532108
NM_001351834.2:c.4375G>C