ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463809
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000498882
RCV000763115
RCV001266160
ClinVar Variation:
431962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Leu138Arg
CA3122353
NM_004453.4:c.413T>G