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: PA2825576136

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2064694

ClinVar RCV Id: RCV002928875

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Lys1322Glu	CA394299259 NM_001114382.3:c.3964A>G