ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828910541
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2124414
ClinVar RCV Id:
RCV003039601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369563.1:p.Leu193Pro
CA364716776
NM_001382634.1:c.578T>C