Allele Registry

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.

Canonical Allele Identifier: PA2828419949

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_001357334.1:p.Pro1222del	CA10579895 NM_001370405.1:c.3665_3667del