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: PA2825434069

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1741816

ClinVar RCV Id: RCV002342383

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Phe15Leu	CA394300917 NM_001077183.3:c.43T>C CA394300943 NM_001077183.3:c.45T>A CA394300947 NM_001077183.3:c.45T>G