ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580444409
Gene: SLC5A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2261556
ClinVar RCV Id:
RCV002803107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066918.2:p.Arg240Cys
CA44473352
NM_021095.4:c.718C>T