Canonical Allele Identifier: PA916034116
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407550
ClinVar RCV Id: RCV000476446 RCV002374772
ClinVar Variation Id: 453646
ClinVar RCV Id: RCV000543805 RCV002376972
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Phe2299Leu
CA16613197
NM_001351834.2:c.6897C>G
CA382556911
NM_001351834.2:c.6895T>C
CA382556926
NM_001351834.2:c.6897C>A