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: PA2829891102

Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 1421125

ClinVar RCV Id: RCV001916770

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060360.3:p.Ser948Asn	CA371864646 NM_017890.5:c.2843G>A