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: PA2827005380

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2771708

ClinVar RCV Id: RCV003512766

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Met1612Ile	CA394312590 NM_001318827.2:c.4836G>T CA394312593 NM_001318827.2:c.4836G>C CA394312596 NM_001318827.2:c.4836G>A