ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826593573
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203721
ClinVar RCV Id:
RCV000185898
RCV002282017
RCV002516968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Ala313Val
CA312541
NM_001281737.2:c.938C>T