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: PA223416

Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 95842

ClinVar RCV Id: RCV000081889 RCV000807227 RCV002514437

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_689777.3:p.Ile949Met	CA223412 NM_152564.5:c.2847A>G