ClinGen Allele Registry
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Canonical Allele Identifier:
PA129816
Gene: ETFDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
40255
ClinVar RCV:
RCV000024282
RCV001216553
RCV001826506
ClinVar Variation:
31576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Arg175His
CA129815
NM_004453.4:c.524G>A