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: PA2828420452

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207683

ClinVar RCV Id: RCV001022088 RCV000915945 RCV001721232 RCV003996869

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg1366Gln	CA050701 NM_001370405.1:c.4097G>A