ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826595246
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265124
ClinVar RCV Id:
RCV000255489
RCV001069003
RCV001833298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268667.1:p.Gly550Glu
CA3122732
NM_001281738.1:c.1649G>A