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: PA2825958125

Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486572

ClinVar RCV Id: RCV000574109 RCV000689229

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Glu1111Asp	CA037138 NM_001162427.2:c.3333A>T CA375366263 NM_001162427.2:c.3333A>C