ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129816
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31576
ClinVar RCV Id:
RCV000024282
RCV001216553
RCV001826506
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Arg175His
CA129815
NM_004453.4:c.524G>A