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.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827486654

Gene: PLPBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2068877

ClinVar RCV Id: RCV002975164

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336276.1:p.Met53Leu	CA370666676 NM_001349347.2:c.157A>T CA370666677 NM_001349347.2:c.157A>C