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: PA2825577592

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12402

ClinVar RCV Id: RCV000013211 RCV000043162 RCV000055053 RCV000491359 RCV000483802

ClinVar Variation Id: 1452749

ClinVar RCV Id: RCV001999964

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.His1723_Arg1728del	CA022197 NM_001114382.3:c.5169_5186del CA913184879 NM_001114382.3:c.5157_5174del