ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916034132
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
580840
ClinVar RCV Id:
RCV000704498
RCV003465632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2311Val
CA6266033
NM_001351834.2:c.6931A>G