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: PA2573170650

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1440541

ClinVar RCV Id: RCV001978883

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1781Thr	CA394315676 NM_000548.5:c.5341C>A