ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073457244
Gene: SLC26A4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000432.1:p.Val138Ile
CA164214939
NM_000441.2:c.412G>A