ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916075781
Gene: SLC26A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000054772
RCV002477180
ClinVar Variation:
64585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998778.1:p.Thr562Met
CA216453
NM_213613.4:c.1685C>T