ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658804923
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535916
ClinVar RCV Id:
RCV000644146
RCV002282288
RCV002424465
RCV002483858
RCV004004001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Glu366Gln
CA276776700
NM_000548.5:c.1096G>C