ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828415958
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1442644
ClinVar RCV Id:
RCV001969899
RCV002407144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ala42Val
CA276768623
NM_001370405.1:c.125C>T