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: PA2827009754

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 639390

ClinVar RCV Id: RCV000792166 RCV004001563

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Gln1410Arg	CA394304325 NM_001318829.2:c.4229A>G