ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499248291
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016670
ClinVar RCV Id:
RCV001315705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg912Leu
CA394279443
NM_001318832.2:c.2735G>T