ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828092450
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387803
ClinVar RCV Id:
RCV000433607
RCV003512044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Leu843Pro
CA16606932
NM_001363528.2:c.2528T>C