ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826593533
Gene: ETFDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
196253
ClinVar RCV:
RCV000180601
RCV000723385
RCV001826924
ClinVar Variation:
199094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Leu287Pro
CA346892
NM_001281737.2:c.860T>C