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: PA2827004035

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406054

ClinVar RCV Id: RCV000464141

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Gln1239Arg	CA16615150 NM_001318827.2:c.3716A>G