ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121820
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12029
ClinVar RCV Id:
RCV000012809
RCV002512994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Arg175Leu
CA121819
NM_004453.4:c.524G>T