ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828090325
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406031
ClinVar RCV Id:
RCV000458732
RCV002365618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Pro232Ser
CA056156
NM_001363528.2:c.694C>T