Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA223446

Gene: VPS13B HGNC NCBI

ClinVar RCV:

RCV000081898

RCV000530711

RCV002311681

ClinVar Variation:

95851

HGVS (amino-acid)	Matching Registered Transcripts
NP_689777.3:p.Thr1289Ser	CA223442 NM_152564.5:c.3866C>G CA371867053 NM_152564.5:c.3865A>T