ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825035115
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1756080
ClinVar RCV Id:
RCV003500738
RCV002378067
RCV003471359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2301Glu
CA382556964
NM_000051.4:c.6902C>A