ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827014152
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000230846
RCV001018163
RCV001551091
RCV003998818
ClinVar Variation:
238007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Gln766Glu
CA044006
NM_001318831.2:c.2296C>G