ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829978049
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49874
ClinVar RCV Id:
RCV000043140
RCV001216513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Leu984Pro
CA018468
NM_021055.3:c.2951T>C