ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826594049
Gene: ETFDH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Ile547Thr
CA3122723
NM_001281737.2:c.1640T>C