ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829978211
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406074
ClinVar RCV Id:
RCV000470486
RCV002323694
RCV004000713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1010Val
CA044608
NM_021055.3:c.3029C>T