Canonical Allele Identifier: PA916032044
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 246250
ClinVar RCV Id: RCV000236013 RCV003607275
ClinVar Variation Id: 2015863
ClinVar RCV Id: RCV002843612
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Gly696Arg
CA10584328
NM_001351834.2:c.2086G>A
CA382537606
NM_001351834.2:c.2086G>C