ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828419807
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943389
ClinVar RCV Id:
RCV001213568
RCV004033893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ser1178Leu
CA394292082
NM_001370405.1:c.3533C>T