ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645501105
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407486
ClinVar RCV Id:
RCV000474494
RCV002451101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu848Gly
CA16613369
NM_000051.4:c.2543A>G