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: PA2828093902

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49282

ClinVar RCV Id: RCV000042541 RCV000457664 RCV002354223 RCV001703933 RCV004537163

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ser1275Arg	CA019836 NM_001363528.2:c.3825C>A CA394299190 NM_001363528.2:c.3823A>C CA394299211 NM_001363528.2:c.3825C>G