Canonical Allele Identifier: PA916034677
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 232209
ClinVar Variation Id: 827499
ClinVar RCV Id: RCV001027264
ClinVar Variation Id: 1357183

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Phe2732Leu
CA10579286
NM_001351834.2:c.8194T>C
CA382562547
NM_001351834.2:c.8196C>A
CA382562548
NM_001351834.2:c.8196C>G