ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645501117
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231030
ClinVar RCV Id:
RCV000223362
RCV000228371
RCV002282057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser853Pro
CA10579061
NM_000051.4:c.2557T>C