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: PA1139678087

Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 931063

ClinVar RCV Id: RCV001197250

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000171.1:p.His658Gln	CA397952086 NM_000180.4:c.1974C>A CA397952088 NM_000180.4:c.1974C>G