ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825572206
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468024
ClinVar RCV Id:
RCV000528192
RCV004024050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Leu119Arg
CA394306574
NM_001114382.3:c.356T>G