ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827010581
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2039590
ClinVar RCV Id:
RCV002900008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala1667Val
CA394315700
NM_001318829.2:c.5000C>T