ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032602
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234020
ClinVar RCV Id:
RCV000220781
RCV000462986
RCV000757014
RCV003330592
RCV003491988
RCV003469092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg1086Cys
CA6265233
NM_001351834.2:c.3256C>T