ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109201
Gene: SLC26A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4823
ClinVar RCV Id:
RCV000005092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000432.1:p.Ala372Val
CA253306
NM_000441.2:c.1115C>T