Allele Registry

Canonical Allele Identifier: PA278769

Gene: ECHS1 HGNC NCBI

ClinVar RCV:

RCV000203246

ClinVar Variation:

218891

HGVS (amino-acid)	Matching Registered Transcripts
NP_004083.3:p.Ala138Val	CA278768 NM_004092.4:c.413C>T