ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826595151
Gene: ETFDH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268667.1:p.Glu506Lys
CA358566351
NM_001281738.1:c.1516G>A