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: PA916050183

Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 11022

ClinVar RCV Id: RCV000011769

ClinVar Variation Id: 2780476

ClinVar RCV Id: RCV003621780

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065817.2:p.Asn557Lys	CA121303 NM_020766.3:c.1671C>G CA414002219 NM_020766.3:c.1671C>A