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: PA2827007538

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1784483

ClinVar RCV Id: RCV002417420 RCV004007389

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ala624Pro	CA394274491 NM_001318829.2:c.1870G>C