ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826594240
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12030
ClinVar RCV Id:
RCV000012810
RCV000721976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268667.1:p.Leu66His
CA121821
NM_001281738.1:c.197T>A