Canonical Allele Identifier: PA2827435510
Gene: SLC6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421211
ClinVar RCV Id: RCV000485887 RCV000517929 RCV002274039 RCV004556060 RCV003762748
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001335179.1:p.Val511Met
CA16617802
NM_001348250.2:c.1531G>A