ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104559
Gene: SLC6A8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000012468
ClinVar Variation:
11702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005620.1:p.Cys337Trp
CA256013
NM_005629.4:c.1011C>G