ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826593243
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_001268666.1:p.Arg128His
CA129815
NM_001281737.2:c.383G>A