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: PA2828418097

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 571950

ClinVar RCV Id: RCV000693218

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Pro674_Ala678dup	CA620704832 NM_001370405.1:c.2016_2030dup