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: PA2827002052

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2869772

ClinVar RCV Id: RCV003626367

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ala636Ser	CA394274492 NM_001318827.2:c.1906G>T