ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA187453
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184002
ClinVar RCV Id:
RCV000163104
RCV000486511
RCV000804749
RCV002228686
RCV002485008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser1655Tyr
CA187451
NM_000051.4:c.4964C>A