Canonical Allele Identifier: PA278769
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218891
ClinVar RCV Id: RCV000203246

Amino-acid Alleles

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