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: PA2827853197

Gene: PCDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 282913

ClinVar RCV Id: RCV000358392

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341340.1:p.Ser1707Arg	CA10604342 NM_001354411.2:c.5121T>A CA376518899 NM_001354411.2:c.5121T>G CA376518912 NM_001354411.2:c.5119A>C