ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826594975
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001381020
ClinVar Variation:
242522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268667.1:p.Leu435Pro
CA351297
NM_001281738.1:c.1304T>C