ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139703196
Gene: SLC6A8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005620.1:p.Tyr438Phe
CA415086789
NM_005629.4:c.1313A>T