ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580444416
Gene: SLC5A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2386501
ClinVar RCV Id:
RCV002680197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066918.2:p.Ala357Val
CA1571595
NM_021095.4:c.1070C>T