ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214907
Gene: ECHS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004083.3:p.Asn59Ser
CA090977
NM_004092.4:c.176A>G