ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144050
Gene: SLC26A3
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000102.1:p.Gln454Ter
NM_000111.3:c.1360C>T