ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828411237
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467870
ClinVar RCV Id:
RCV000527111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Leu473Val
CA394323959
NM_001370404.1:c.1417C>G