ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825576790
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1046768
ClinVar RCV Id:
RCV001351367
RCV004005243
RCV004036651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Arg1506Leu
CA394304452
NM_001114382.3:c.4517G>T