ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827013170
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486625
ClinVar RCV Id:
RCV000566288
RCV000693999
RCV001840684
RCV004001151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Gly476Val
CA035845
NM_001318831.2:c.1427G>T