ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032028
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186816
ClinVar RCV Id:
RCV000166467
RCV000226670
RCV000236655
RCV001824657
RCV003462214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln684Arg
CA195956
NM_001351834.2:c.2051A>G