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: PA2828089717

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 951243

ClinVar RCV Id: RCV001223108 RCV002379842

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Leu45Pro	CA394301801 NM_001363528.2:c.134T>C