Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA645453268

Gene: EDNRB HGNC NCBI

Linked Data

ClinVar Variation Id: 312470

ClinVar RCV Id: RCV000260247 RCV001859873

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000106.1:p.Cys380Ser	CA7012178 NM_000115.5:c.1139G>C CA388451127 NM_000115.5:c.1138T>A