ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580202746
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1721376
ClinVar RCV Id:
RCV002300365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu439Ile
CA382533652
NM_001351834.2:c.1315C>A