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: PA2827010585

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 574864

ClinVar RCV Id: RCV000696912 RCV002343495 RCV002477587

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ala1667Ser	CA394315696 NM_001318829.2:c.4999G>T