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: PA2825571868

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 639541

ClinVar RCV Id: RCV000792358

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Glu13del	CA047363 NM_001114382.3:c.37_39del CA394300847 NM_001114382.3:c.37G>T