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: PA2826148861

Gene: PCDH19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2793170

ClinVar RCV Id: RCV003621929

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171809.1:p.His523Gln	CA414002440 NM_001184880.2:c.1569C>G CA414002441 NM_001184880.2:c.1569C>A