ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023298
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65337
ClinVar RCV Id:
RCV000055561
RCV001053191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu230Pro
CA022749
NM_001318832.2:c.689T>C