×
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:
PA645433676
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230769
ClinVar RCV Id:
RCV000220849
RCV001853522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro1265del
CA10579895
NM_000548.5:c.3794_3796del