ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273967
Gene: SLC26A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188793
ClinVar RCV Id:
RCV000169123
RCV000770860
RCV000808026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000432.1:p.Ala360Val
CA273966
NM_000441.2:c.1079C>T