ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032866
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220775
ClinVar RCV Id:
RCV000206762
RCV000478981
RCV000573505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro1296Ser
CA350768
NM_001351834.2:c.3886C>T