ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828419223
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_001357334.1:p.Leu1008Arg
CA394285304
NM_001370405.1:c.3023T>G