ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916034649
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000572136
RCV003500553
RCV004024472
ClinVar Variation:
481225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys2717Arg
CA382562265
NM_001351834.2:c.8150A>G