ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645433367
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406059
ClinVar RCV Id:
RCV000841759
RCV001082094
RCV001020514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1174Trp
CA047295
NM_000548.5:c.3520C>T