ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825031516
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972221
ClinVar RCV Id:
RCV001248197
RCV002418854
RCV001760287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly696Glu
CA6264927
NM_000051.4:c.2087G>A