ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580205887
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2054375
ClinVar RCV Id:
RCV002909767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu2304Gly
CA382557025
NM_001351834.2:c.6911A>G