ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916033529
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482544
ClinVar RCV Id:
RCV000565602
RCV001591332
RCV001231064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu1851Phe
CA6265727
NM_001351834.2:c.5551C>T