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: PA2828089622

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 824096

ClinVar RCV Id: RCV001020923

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Lys12Asn	CA394300828 NM_001363528.2:c.36G>C CA394300841 NM_001363528.2:c.36G>T