ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829983516
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2416226
ClinVar RCV Id:
RCV003106975
RCV003384352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Tyr1693Cys
CA394314314
NM_021055.3:c.5078A>G