ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020851
Gene: SLC22A5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000512974
RCV001002320
RCV003902502
ClinVar Variation:
380141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295051.1:p.Val505Ile
CA3404155
NM_001308122.2:c.1513G>A