ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916033534
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
137362
ClinVar RCV:
RCV000120145
RCV000122859
RCV000128902
RCV000513231
RCV001262813
RCV001358294
RCV001798378
RCV002225361
RCV003224156
ClinVar Variation:
133623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp1853Val
CA157135
NM_001351834.2:c.5558A>T