ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827085582
Gene: SLC27A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286343
ClinVar RCV Id:
RCV000331242
RCV002519228
RCV003982990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308125.1:p.Arg53Trp
CA9718338
NM_001321196.2:c.157C>T