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: PA214834

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_000539.2:p.His1746_Arg1751del	CA022197 NM_000548.5:c.5238_5255del CA913184879 NM_000548.5:c.5226_5243del