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: PA2825184324

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1717908

ClinVar RCV Id: RCV002297893 RCV004047671

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu1000Met	CA394283761 NM_000548.5:c.2998T>A