ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826593539
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000493889
RCV001856959
RCV002282174
ClinVar Variation:
429351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Phe293Tyr
CA358562056
NM_001281737.2:c.878T>A