Allele Registry

Canonical Allele Identifier: PA916004323

Gene: ECHS1 HGNC NCBI

ClinVar RCV:

RCV000988463

RCV001567385

ClinVar Variation:

802642

HGVS (amino-acid)	Matching Registered Transcripts
NP_004083.3:p.Arg54His	CA5765861 NM_004092.4:c.161G>A