ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658674168
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453434
ClinVar RCV Id:
RCV000544792
RCV003470666
RCV004023637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser933Cys
CA228407758
NM_000051.4:c.2798C>G