ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825852328
Gene: SLC6A8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136277.1:p.Arg430Cys
CA10549491
NM_001142805.2:c.1288C>T