ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828413675
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1733712
ClinVar RCV Id:
RCV002452586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Asp1178Tyr
CA394292119
NM_001370404.1:c.3532G>T