ClinGen Allele Registry
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Canonical Allele Identifier:
PA247980
Gene: SLC26A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199023
ClinVar RCV Id:
RCV000180506
RCV001159776
RCV000724401
RCV001159775
RCV003165379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000432.1:p.Ser347Leu
CA247979
NM_000441.2:c.1040C>T