ClinGen Allele Registry
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Canonical Allele Identifier:
PA3077581787
Gene: ECHS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004083.3:p.Phe33Ser
CA378823925
NM_004092.4:c.98T>C