ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852272
Gene: SLC6A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465141
ClinVar RCV Id:
RCV000551024
RCV000623839
RCV001572173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136277.1:p.Arg381Trp
CA415086241
NM_001142805.2:c.1141C>T