ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826593843
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194057
ClinVar RCV Id:
RCV000174333
RCV000275519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Asp464Asn
CA239854
NM_001281737.2:c.1390G>A