ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102239
Gene: SLC26A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000049409
RCV003556127
ClinVar Variation:
56000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000102.1:p.Pro131Leu
CA144099
NM_000111.3:c.392C>T