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: PA2828418854

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49586

ClinVar RCV Id: RCV000042847 RCV000201152 RCV002433527

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala889Val	CA017841 NM_001370405.1:c.2666C>T