ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170639
Gene: ELOVL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
144076
ClinVar RCV Id:
RCV000133588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229757.1:p.Leu72Val
CA170638
NM_001242828.1:c.214C>G