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: PA2827003026

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 570889

ClinVar RCV Id: RCV000691869 RCV004025100

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser922Phe	CA043825 NM_001318827.2:c.2765C>T