Canonical Allele Identifier: PA916033779
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 219787
ClinVar RCV Id: RCV000204272 RCV000255601 RCV000574550 RCV001270952 RCV004547473 RCV003334385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Glu2039Lys
CA348515
NM_001351834.2:c.6115G>A