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: PA2825186431

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2064694

ClinVar RCV Id: RCV002928875

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Lys1345Glu	CA394299259 NM_000548.5:c.4033A>G