ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830263280
Gene: SLC26A8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50910
ClinVar RCV Id:
RCV000043625
RCV002247429
RCV002513638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619732.2:p.Glu707Lys
CA143849
NM_138718.3:c.2119G>A