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: PA2825437047

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 570889

ClinVar RCV Id: RCV000691869 RCV004025100

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ser958Phe	CA043825 NM_001077183.3:c.2873C>T