ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829975231
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
589454
ClinVar RCV Id:
RCV000815171
RCV002316686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg680Gly
CA394274561
NM_021055.3:c.2038C>G