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: PA2827019689

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1366314

ClinVar RCV Id: RCV001944620

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gly1346_Pro1356del	CA2573151623 NM_001318832.2:c.4037_4069del