ClinGen Allele Registry
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Canonical Allele Identifier:
PA312540
Gene: ETFDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
200074
ClinVar RCV:
RCV000185897
RCV002478652
ClinVar Variation:
203720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Arg358Lys
CA312539
NM_004453.4:c.1073G>A