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: PA2828094101

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_001350457.1:p.Gly1336_Pro1346del	CA2573151623 NM_001363528.2:c.4007_4039del