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: PA2829609403

Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2290132

ClinVar RCV Id: RCV002854159 RCV003991050

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005620.1:p.Trp124Arg	CA415077941 NM_005629.4:c.370T>A CA415077944 NM_005629.4:c.370T>C