ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032078
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628900
ClinVar RCV Id:
RCV000773565
RCV001345041
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg720Ser
CA382538754
NM_001351834.2:c.2158C>A