ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826593609
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31601
ClinVar RCV Id:
RCV000024305
RCV000210651
RCV000578325
RCV001814011
RCV001831605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Leu330Pro
CA129834
NM_001281737.2:c.989T>C