ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829992601
Gene: SLC26A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1443863
ClinVar RCV Id:
RCV001955760
RCV002479544
RCV002562872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071325.2:p.Arg688Gln
CA2801187
NM_022042.4:c.2063G>A