ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463892
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429351
ClinVar RCV Id:
RCV000493889
RCV001856959
RCV002282174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Phe340Tyr
CA358562056
NM_004453.4:c.1019T>A