Canonical Allele Identifier: PA1139739392
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 944000
ClinVar RCV Id: RCV001214306 RCV002356917
ClinVar Variation Id: 3222152
ClinVar RCV Id: RCV004513570
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Gly2013Arg
CA382549906
NM_001351834.2:c.6037G>A
CA382549907
NM_001351834.2:c.6037G>C