ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020793
Gene: SLC22A5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000540060
RCV001311676
RCV003235209
ClinVar Variation:
381879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295051.1:p.Ile336Val
CA3404011
NM_001308122.2:c.1006A>G