ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826032817
Gene: SLC16A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1981232
ClinVar RCV Id:
RCV002751354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159968.1:p.Asp228del
CA885683474
NM_001166496.2:c.683_685del