ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032039
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524244
ClinVar RCV Id:
RCV000627872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu690Pro
CA382537515
NM_001351834.2:c.2069T>C