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: PA2829980756

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 824705

ClinVar RCV Id: RCV001022107 RCV001052392 RCV004004624

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Pro1369Ser	CA394300280 NM_021055.3:c.4105C>T