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: PA2828414736

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_001357333.1:p.Phe1483Ser	CA394304382 NM_001370404.1:c.4448T>C