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: PA2828094141

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 579558

ClinVar RCV Id: RCV000702874 RCV002332493 RCV002477621 RCV003313136 RCV003465625

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ser1345Asn	CA394300256 NM_001363528.2:c.4034G>A