ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827085803
Gene: SLC27A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499339
ClinVar RCV Id:
RCV000597621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308125.1:p.Val553Leu
CA407946394
NM_001321196.2:c.1657G>C