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: PA2827013154

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406039

ClinVar RCV Id: RCV000457153 RCV000568724 RCV000765267

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Pro472Leu	CA16615063 NM_001318831.2:c.1415C>T