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: PA2828411962

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535899

ClinVar RCV Id: RCV000644122 RCV001014079 RCV002499096

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Gly671Asp	CA035599 NM_001370404.1:c.2012G>A