ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121822
Gene: ETFDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000012810
RCV000721976
ClinVar Variation:
12030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Leu127His
CA121821
NM_004453.4:c.380T>A