ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828909995
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1482990
ClinVar RCV Id:
RCV002025320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369561.1:p.Val92Ala
CA364718617
NM_001382632.1:c.275T>C