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: PA2830317687

Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 3188767

ClinVar RCV Id: RCV004482662

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_689777.3:p.Ala3695Gly	CA371790343 NM_152564.5:c.11084C>G