ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020758
Gene: SLC22A5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000022332
RCV000186137
RCV002226449
ClinVar Variation:
38279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295051.1:p.Ala238Val
CA312942
NM_001308122.2:c.713C>T