ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658825848
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
555577
ClinVar RCV Id:
RCV000671419
RCV002406514
RCV003465509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu650del
CA658821431
NM_000051.4:c.1948_1950del