Canonical Allele Identifier: PA916033007
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 128456
ClinVar RCV Id: RCV000116425 RCV000119139 RCV000130979 RCV001357258 RCV001798368 RCV001795159 RCV002225336
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Leu1420Phe
CA248696
NM_001351834.2:c.4258C>T