ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827000740
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283532
ClinVar RCV Id:
RCV000394048
RCV000570041
RCV001089419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Phe261Ser
CA056651
NM_001318827.2:c.782T>C