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: PA2825179297

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395321

ClinVar RCV Id: RCV001901149 RCV002256862

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Lys14Arg	CA394300893 NM_000548.5:c.41A>G