ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826595067
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418184
ClinVar RCV Id:
RCV000483304
RCV000818859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268667.1:p.Pro473Leu
CA3122669
NM_001281738.1:c.1418C>T