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: PA2828094133

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506402

ClinVar RCV Id: RCV003234985

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Gly1342Asp	CA394300149 NM_001363528.2:c.4025G>A