ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658680663
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467890
ClinVar RCV Id:
RCV000552124
RCV002404476
RCV003999256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Val564Ile
CA032290
NM_000548.5:c.1690G>A