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: PA2827016444

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 962769

ClinVar RCV Id: RCV001236689 RCV002255636

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.His1502_Arg1507dup	CA620705069 NM_001318831.2:c.4506_4523dup