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: PA223357

Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 56642

ClinVar RCV Id: RCV000050055 RCV000081876 RCV002313737 RCV003982870

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_689777.3:p.Asp3917dup	CA223354 NM_152564.5:c.11750_11752dup