ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023435
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
184122
ClinVar RCV:
RCV000163295
RCV000189884
RCV000726305
RCV001081464
RCV001120921
RCV004544488
ClinVar Variation:
184138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala426Val
CA014143
NM_001318832.2:c.1277C>T