ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139767260
Gene: SLC26A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998778.1:p.Ala354Thr
CA2801476
NM_213613.4:c.1060G>A