ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463547
Gene: SLC6A8
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005620.1:p.Gln304His
NM_005629.4:c.912G>C
NM_005629.4:c.912G>T