This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ECHS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000357535.3:p.Val219Leu
CA378819398
ENST00000368547.4:c.655G>C
CA378819399
ENST00000368547.4:c.655G>T