ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828909330
Gene: SLC17A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2139477
ClinVar RCV Id:
RCV003052616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369558.1:p.Pro48Ser
CA3890541
NM_001382629.1:c.142C>T