ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830247994
Gene: SLC26A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64457
ClinVar RCV Id:
RCV000054644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_599025.2:p.Val228Leu
CA216183
NM_134263.3:c.682G>C