ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827018560
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1728211
ClinVar RCV Id:
RCV002320843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu1018Arg
CA394285304
NM_001318832.2:c.3053T>G