ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031283
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482556
ClinVar RCV Id:
RCV000567429
RCV003324770
RCV001045775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Cys141Tyr
CA6264606
NM_001351834.2:c.422G>A