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: PA2828094135

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468071

ClinVar RCV Id: RCV000540815 RCV001672838 RCV003999309 RCV002330897

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1343Gly	CA276753368 NM_001363528.2:c.4027C>G