ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827019856
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468084
ClinVar RCV Id:
RCV000557731
RCV001022338
RCV003999314
RCV004527648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg1395Ser
CA050936
NM_001318832.2:c.4183C>A