ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463822
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000479281
RCV001865424
ClinVar Variation:
418183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Ala187Val
CA3122394
NM_004453.4:c.560C>T