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: PA2827015214

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2827102

ClinVar RCV Id: RCV003628133

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ser1167Arg	CA394300235 NM_001318831.2:c.3499A>C CA394300264 NM_001318831.2:c.3501C>A CA394300268 NM_001318831.2:c.3501C>G