ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916075731
Gene: SLC26A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242374
ClinVar RCV Id:
RCV000234843
RCV000681878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998778.1:p.Thr185Met
CA2801632
NM_213613.4:c.554C>T