ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023861
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318320
ClinVar RCV Id:
RCV000309089
RCV000644137
RCV002446569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr782Ile
CA10637328
NM_001318832.2:c.2345C>T