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: PA2741863542

Gene: PLPBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2897496

ClinVar RCV Id: RCV003733513

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336278.1:p.Met88Ile	CA370666681 NM_001349349.1:c.264G>A CA370666682 NM_001349349.1:c.264G>C CA370666683 NM_001349349.1:c.264G>T