Allele Registry

Canonical Allele Identifier: PA916004375

Gene: ECHS1 HGNC NCBI

ClinVar RCV:

RCV000851532

RCV001564785

ClinVar Variation:

691284

HGVS (amino-acid)	Matching Registered Transcripts
NP_004083.3:p.Thr180Ala	CA5765729 NM_004092.4:c.538A>G