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: PA2828409834

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 639412

ClinVar RCV Id: RCV000792194 RCV003380711

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Leu45Val	CA394301789 NM_001370404.1:c.133C>G