ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031414
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482726
ClinVar RCV Id:
RCV000780889
RCV001549733
RCV000574948
RCV000627910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Cys219Arg
CA6264641
NM_001351834.2:c.655T>C