ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573162949
Gene: SLC26A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1462113
ClinVar RCV Id:
RCV001954185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000103.2:p.Leu587Phe
CA361708718
NM_000112.4:c.1759C>T