ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA286814
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115178
RCV000122843
RCV000254228
RCV000679113
RCV003315635
ClinVar Variation:
127373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile124Val
CA286812
NM_000051.4:c.370A>G