ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658826953
Gene: SLC26A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
549979
ClinVar RCV Id:
RCV000664579
RCV001061723
RCV002499145
RCV003472064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000432.1:p.Ser448Leu
CA4432795
NM_000441.2:c.1343C>T