ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827002669
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50077
ClinVar RCV Id:
RCV000043343
RCV000491444
RCV001852902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Leu813Pro
CA017661
NM_001318827.2:c.2438T>C