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: PA2573170390

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512761

ClinVar RCV Id: RCV002023196

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Phe1527Ser	CA394304382 NM_000548.5:c.4580T>C