ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829992505
Gene: SLC26A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1363882
ClinVar RCV Id:
RCV001937220
RCV002490011
RCV004039859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071325.2:p.Arg465Gln
CA2801387
NM_022042.4:c.1394G>A