ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826594667
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199094
ClinVar RCV Id:
RCV000180601
RCV000723385
RCV001826924
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268667.1:p.Leu273Pro
CA346892
NM_001281738.1:c.818T>C