ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828090165
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49846
ClinVar RCV Id:
RCV000043112
RCV000419036
RCV000989415
RCV000729019
RCV001024017
RCV000781951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Leu180Val
CA022465
NM_001363528.2:c.538C>G