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: PA2829970122

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486676

ClinVar RCV Id: RCV000562925 RCV001853810 RCV002476254 RCV004001170

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Glu13Lys	CA394300845 NM_021055.3:c.37G>A