Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2580416972

Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2154393

ClinVar RCV Id: RCV003081764

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060360.3:p.Trp2474Cys	CA371875741 NM_017890.5:c.7422G>T CA371875742 NM_017890.5:c.7422G>C