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: PA2825851933

Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1187113

ClinVar RCV Id: RCV001546447

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136277.1:p.Ser5Arg	CA415075869 NM_001142805.2:c.13A>C CA415075876 NM_001142805.2:c.15C>A CA415075877 NM_001142805.2:c.15C>G