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: PA2829983991

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238085

ClinVar RCV Id: RCV000520770 RCV001086979 RCV002347871 RCV003998839

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Pro1738Leu	CA10583347 NM_021055.3:c.5213C>T