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: PA351770

Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 222656

ClinVar RCV Id: RCV000208089

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065166.2:p.Asn409Lys	CA351768 NM_020433.5:c.1227C>G CA409101784 NM_020433.5:c.1227C>A