ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916022978
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50010
ClinVar RCV Id:
RCV000043278
RCV000421501
RCV000457171
RCV001018037
RCV002262605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Met86Thr
CA023058
NM_001318831.2:c.257T>C