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: PA2825574085

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65383

ClinVar RCV Id: RCV000055611 RCV000189898 RCV000204401 RCV000567608 RCV004542724

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Pro670Leu	CA016425 NM_001114382.3:c.2009C>T