ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829976940
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_066399.2:p.Leu850Pro
CA017661
NM_021055.3:c.2549T>C