ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916035056
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142187
ClinVar RCV Id:
RCV000131173
RCV000169274
RCV000212096
RCV003162585
RCV003474775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg3008Cys
CA294307
NM_001351834.2:c.9022C>T