ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829976028
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207726
ClinVar RCV Id:
RCV000189995
RCV000563688
RCV001086435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Thr746Ile
CA037685
NM_021055.3:c.2237C>T