ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658739357
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489529
ClinVar RCV Id:
RCV000581022
RCV001853852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser934Gly
CA6265113
NM_000051.4:c.2800A>G