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: PA2829977906

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 229369

ClinVar RCV Id: RCV000218870 RCV000477004 RCV000574771 RCV003153493

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Gly958Glu	CA043736 NM_021055.3:c.2873G>A