ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826052137
Gene: SLC26A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2100569
ClinVar RCV Id:
RCV003025921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161434.1:p.Glu689Lys
CA368749604
NM_001167962.2:c.2065G>A