ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825574112
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000566288
RCV000693999
RCV001840684
RCV004001151
ClinVar Variation:
486625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Gly676Val
CA035845
NM_001114382.3:c.2027G>T