ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032096
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135743
ClinVar RCV Id:
RCV000122832
RCV000777661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala736Val
CA332324
NM_001351834.2:c.2207C>T