ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829971392
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468165
ClinVar RCV Id:
RCV000538231
RCV002350303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Val179Met
CA055211
NM_021055.3:c.535G>A