ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826593817
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242522
ClinVar RCV Id:
RCV001381020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Leu449Pro
CA351297
NM_001281737.2:c.1346T>C