ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830248313
Gene: SLC26A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_602297.1:p.Phe107del
CA2801706
NM_134425.4:c.319_321del