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: PA2827853916

Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2146599

ClinVar RCV Id: RCV003067215

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341349.1:p.Met629Ile	CA376514874 NM_001354420.2:c.1887G>T CA376514875 NM_001354420.2:c.1887G>C CA376514877 NM_001354420.2:c.1887G>A