ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829983985
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468161
ClinVar RCV Id:
RCV000548829
RCV000615984
RCV002350301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Thr1737Pro
CA276760048
NM_021055.3:c.5209A>C