ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA286734
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115143
RCV000168231
RCV000211963
RCV000515225
RCV001818258
RCV003149791
RCV003237336
RCV004549539
ClinVar Variation:
127339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly506Cys
CA286732
NM_000051.4:c.1516G>T