ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139727326
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
921929
ClinVar RCV Id:
RCV001181684
RCV001876035
RCV003469299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln2269Glu
CA382555611
NM_001351834.2:c.6805C>G