×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828095540
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1440541
ClinVar RCV Id:
RCV001978883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Pro1715Thr
CA394315676
NM_001363528.2:c.5143C>A