ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827628535
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000129025
RCV000199094
RCV000219679
RCV001199867
RCV002498640
RCV003315869
ClinVar Variation:
140832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg45Trp
CA163682
NM_001351834.2:c.133C>T