Allele Registry

Canonical Allele Identifier: PA2827435538

Gene: SLC6A1 HGNC NCBI

ClinVar RCV:

RCV000286162

RCV000440443

RCV001007935

RCV003444225

RCV003444231

RCV003595908

ClinVar Variation:

280932

383730

HGVS (amino-acid)	Matching Registered Transcripts
NP_001335179.1:p.Gly550Arg	CA10602860 NM_001348250.2:c.1648G>A CA16604437 NM_001348250.2:c.1648G>C