Allele Registry

Canonical Allele Identifier: PA2827435294

Gene: SLC6A1 HGNC NCBI

ClinVar RCV:

RCV000414233

RCV000622292

RCV002508925

RCV003444216

RCV003595875

ClinVar Variation:

192372

HGVS (amino-acid)	Matching Registered Transcripts
NP_001335179.1:p.Ala288Val	CA200221 NM_001348250.2:c.863C>T