ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826594604
Gene: ETFDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000185895
ClinVar Variation:
203718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268667.1:p.Tyr249Cys
CA312535
NM_001281738.1:c.746A>G