ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828419253
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64897
ClinVar RCV Id:
RCV000055098
RCV000491308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Leu1018Pro
CA018665
NM_001370405.1:c.3053T>C