ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139730336
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
958029
ClinVar RCV Id:
RCV001231115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr2737Arg
CA382562585
NM_001351834.2:c.8210C>G