ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA298042
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181885
ClinVar RCV Id:
RCV000219191
RCV000589270
RCV000456777
RCV002484994
RCV003226221
RCV003467220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2275Val
CA298040
NM_000051.4:c.6823A>G