ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827006072
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49319
ClinVar RCV Id:
RCV000042579
RCV000518124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu111Val
CA021005
NM_001318829.2:c.331C>G