ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916035280
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127368
ClinVar RCV Id:
RCV000115173
RCV000198992
RCV000515352
RCV000589242
RCV002225317
RCV001357199
RCV001260261
RCV004549546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338765.1:p.Cys107Tyr
CA286800
NM_001351836.2:c.320G>A