ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827017328
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480835
ClinVar RCV Id:
RCV000567862
RCV001035509
RCV002291670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Tyr285Cys
CA394313259
NM_001318832.2:c.854A>G