ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658670542
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453705
ClinVar RCV Id:
RCV000546599
RCV000777212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys2607Arg
CA382561300
NM_000051.4:c.7819T>C