ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031365
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453593
ClinVar RCV Id:
RCV000558820
RCV001024352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala188Asp
CA382527781
NM_001351834.2:c.563C>A