ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916033545
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478964
ClinVar RCV Id:
RCV000570161
RCV000709186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg1859Lys
CA382546106
NM_001351834.2:c.5576G>A