Canonical Allele Identifier: PA916033711
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127415
ClinVar RCV Id: RCV000122863 RCV000115220 RCV000212036 RCV000588284 RCV000515391 RCV001358376 RCV003482132 RCV003492461 RCV003492462 RCV004549560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Lys1992Thr
CA286913
NM_001351834.2:c.5975A>C