ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA298149
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181921
ClinVar RCV Id:
RCV000159686
RCV000211969
RCV000462248
RCV000780876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile598Val
CA298147
NM_000051.4:c.1792A>G