ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108080
Gene: SLC22A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003051.1:p.Ala442Ile
NM_003060.4:c.1324_1325delinsAT