Allele Registry

Canonical Allele Identifier: PA2827435752

Gene: SLC6A1 HGNC NCBI

ClinVar RCV:

RCV003444214

RCV003595874

ClinVar Variation:

192370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001335180.1:p.Ala214Pro	CA200219 NM_001348251.2:c.640G>C