ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826593244
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418182
ClinVar RCV Id:
RCV000485144
RCV002525759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Arg128Cys
CA3122387
NM_001281737.2:c.382C>T