ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236267
Gene: SLC17A5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_036566.1:p.Ser300Phe
NM_012434.5:c.899C>T