ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825955859
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1346235
ClinVar RCV Id:
RCV002050062
RCV004009171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Gln384Arg
CA375366139
NM_001162427.2:c.1151A>G