Canonical Allele Identifier: PA2499265806
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1255366
ClinVar Variation Id: 2890783
ClinVar RCV Id: RCV003722630

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Val11Ala
CA5765913
NM_004092.4:c.32T>C
CA2739276054
NM_004092.4:c.32_33delinsCT