Allele Registry

Canonical Allele Identifier: PA2827435863

Gene: SLC6A1 HGNC NCBI

ClinVar RCV:

RCV000487237

RCV000850413

RCV003444640

RCV003596502

ClinVar Variation:

421382

570384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001335180.1:p.Ser339Arg	CA16617801 NM_001348251.2:c.1017C>A CA351791459 NM_001348251.2:c.1015A>C CA351791465 NM_001348251.2:c.1017C>G