ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580186877
Gene: ETFDH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Leu80Phe
CA358574496
NM_001281737.2:c.238C>T