ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023343
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65217
ClinVar RCV Id:
RCV000055437
RCV001730486
RCV002381358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val345Ala
CA013517
NM_001318832.2:c.1034T>C