ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828413396
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468013
ClinVar RCV Id:
RCV000543971
RCV002456156
RCV003999289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Val1095Ile
CA046764
NM_001370404.1:c.3283G>A