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: PA916023164

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 824096

ClinVar RCV Id: RCV001020923

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Lys23Asn	CA394300828 NM_001318832.2:c.69G>C CA394300841 NM_001318832.2:c.69G>T