ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102221
Gene: SLC26A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000102.1:p.Pro129Leu
CA144095
NM_000111.3:c.386C>T