ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826594481
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000185893
RCV001827992
RCV002517823
ClinVar Variation:
203716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268667.1:p.Ala184Thr
CA312531
NM_001281738.1:c.550G>A