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: PA2825852753

Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 624450

ClinVar RCV Id: RCV000762678

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136278.1:p.Phe291Leu	CA415086524 NM_001142806.1:c.871T>C CA415086536 NM_001142806.1:c.873C>A CA415086537 NM_001142806.1:c.873C>G