Canonical Allele Identifier: PA916035188
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127335
ClinVar RCV Id: RCV000115139 RCV000211940 RCV000231946 RCV001030450 RCV001358550 RCV001719857 RCV003315633 RCV003153366 RCV003492452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338765.1:p.His42Arg
CA286723
NM_001351836.2:c.125A>G