ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827018362
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2037148
ClinVar RCV Id:
RCV002885537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Cys911Arg
CA394279428
NM_001318832.2:c.2731T>C