ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3069890750
Gene: SLC26A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998778.1:p.Thr185Lys
CA355957599
NM_213613.4:c.554C>A