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: PA2830317688

Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 999275

ClinVar RCV Id: RCV001295252 RCV002437005

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_689777.3:p.Arg3696Trp	CA4825140 NM_152564.5:c.11086C>T